question
stringlengths 84
268
| answer
stringlengths 6
879
| reference_sequence
stringlengths 4.1k
4.1k
| mutated_sequence
stringlengths 4.1k
4.1k
| cleaned_pathogenicity
stringclasses 2
values | __index_level_0__
int64 67
343k
|
|---|---|---|---|---|---|
A mutation at chromosome position 153725284 on chromosome X in gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Adrenoleukodystrophy']
|
CAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACA
|
CAGACTCATCCTGTTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCAC
|
pathogenic
| 340,421 |
For chromosome X, position 153725297, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Adrenoleukodystrophy']
|
TTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTA
|
TTGCTAGAAGGTTTCCCACAGGAAGATGTGAGCTTGTTTCCTGGCAGGGCACAAAAGGTACGGGACTTGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCT
|
pathogenic
| 340,424 |
Mutation found at chromosome X position 153725364, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Adrenoleukodystrophy']
|
TGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCT
|
TGTAAGCGCTGGGCAGCCAAGAACATCCAGTTCAGTTACCCTGCGAGGCTGGGGCCGCCACTCTCCACCCTGACCCCCTGCACTTTGCTTCAAAGTCTCTGATGCGCTGGCGGAAGCAGGGCTCCACTCGGCAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTN
|
pathogenic
| 340,427 |
Determine if the mutation at chromosome X, position 153725495 in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Adrenoleukodystrophy']
|
CAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACT
|
CAGGGCCTCTTGGCCAGCAGCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTNNNNNNNNN
|
pathogenic
| 340,434 |
Located at chromosome X position 153725514, the variant affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Adrenoleukodystrophy']
|
GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGC
|
GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAG
|
pathogenic
| 340,435 |
Evaluate this variant at chromosome X, position 153725514, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Adrenoleukodystrophy']
|
GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGC
|
GCGTTCACAGGCCCCACAAACTTCCGTTCGCTGGTCAATTACCTGCCCCCTCCAGCACGTGTGTCAACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCN
|
pathogenic
| 340,436 |
A genetic variant at chromosome X, position 153725579, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Adrenoleukodystrophy']
|
AACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTC
|
AACACGTCCAGAGCGGCCTCTCCCGACGATCCCTGCCCCAGGAAGCCCGAGATTTCCGACGCCCGTTTAACTGAAAGGCGTTCTTCGGGAAGAGCAGTGCCAGGGCACCAAGAGGAGGACGCCTCGGCACCCATCGGGCGCTCCCTTCCCCGCCAGGCAGAACTCAGCCGCAGAGGCGGGCGCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCNNNN
|
pathogenic
| 340,444 |
Does the chromosome X mutation at position 153725760 within gene ABCD1 (ATP binding cassette subfamily D member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Adrenoleukodystrophy']
|
GCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGG
|
GCTCTGCGGGCCCAAATCCCCGCTACCAGGCAGGCCCAAGGCCGCACCTAGTCCAAGCGCTGCCGACGCCCCCGCCTCCCACCGTCCCCACGGCGCCCGCGGAGAGAAACCGGCACCTCCCTCGAGGATCCAGCGGCCTTCCGCCCGGGGCCGCTTCGCCTCCGGTGGGCTGGAGGCCCGCAAGAGCGACTCCTAGAGGGCAGGATTCGGGACCAAGCGCAAAGGCAGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 340,465 |
A genetic variant at chromosome X, position 153725986, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Adrenoleukodystrophy']
|
AGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCA
|
AGGTCTCGACCAAGCACCTCAAGGCCCCATACGGAGAAAGTTCTAGACGCAGTATCCTCAGAAGCCAGGGGTCCTTACAGTAGCCCTCGCGGGCCCCAGCGCCCACCCAGAGCGAGGGGCCTCCGACTTGGCCCCGGCCTGGCACACCGTCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACACTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCANN
|
pathogenic
| 340,478 |
Considering the variant on chromosome X, location 153726135, involving gene ABCD1 (ATP binding cassette subfamily D member 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Adrenoleukodystrophy']
|
TCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTC
|
TCCCGGAGGCCCATCCCGGCCGCTCCTCCAGGTGGGGCTTCACCGCCCCCCGCCCCGCCCCCGAGACCAGCTTCTAGAGGCGCCGCCCGGTTTCCCCTCGCCCCTGCCTCTCACACGCAGGTAGGCTGCGGGCCCCGAGATTCCCCGGCCCCCGGGCCTCCCCGCGCCGCTCGCCTCTCTCCCTCGTCGATGGGCCGGGGAGCCTCCGCGGTCCCGGAGCCCAGCCCGGCGCGCGGAGCCCGCTCACCGAGTTTCCCACAGTCAACGTGCAGGCCCCGCCGCAGCAACAGAACTCTCCCACAGCAGCCCCGGCCCCGCCCCTCATACCGCGGCCGGAAACCGGAAGCGCCCGCCGGGCACCGCCCACCAGCCCTCGCGAGGCCCCGGAGGCTCCGCCCACCTCCGCTTCCCACCCCGCCCCGGAGCGGAGGGCCGGCGCTCCGAGCGGGAGAGGAAGAGGCGCCTCGGGCTCCGGGCGAGCAGGGCGGGGTGGAGCGAGCACGCGGGCGGGGCGGGGCGGGGCTTTGTCGGGCCGGCGAGGGCCGCTTCTCTAGTCCGCGCGGCCGTCCCACGTCTCTGTGGTGCGGGAGGGGCCCCGCCGAGGGGCGAGAACGGGAGGTGGGGGTGTGGGCGGGCCCCGCCGAGGGGCGAGAACAGGGTGGGGCTCCCGCGCCCGGACTCCGCCCCTCGCCCCTCCTCCGCCTCCTCCCCTTCCCCCGACTCGCCCCTGGGGAAGAGTGGGTGGGGATTCTGGGCCGGTGGAGGAGTCACTGTCGCTTCAGCCAGGCTGCGGAGCGGACGGACGCGCCTGGTGCCCCGGGGAGGGGCGCCACCGGGGGAGGAGGAGGAGGAGAAGGTGGAGAGGAAGAGACGCCCCCTCTGCCCGAGACCTCTCAAGGCCCTGACCTCAGGGGCCAGGGCACTGACAGGACAGGAGAGCCAAGTTCCTCCACTTGGGCTGCCCGAAGAGGCCGCGACCCTGGAGGGCCCTGAGCCCACCGCACCAGGGGCCCCAGCACCACCCCGGGGGCCTAAAGCGACAGTCTCAGGGGCCATCGCAAGGTTTCCAGTTGCCTAGACAACAGGCCCAGGGTCAGAGCAACAATCCTTCCAGCCACCTGCCTCAACTGCTGCCCCAGGCACCAGCCCCAGTCCCTACGCGGCAGCCAGCCCAGGTGACATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTGCTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTGGCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTCGCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGGCTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCCTTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGCTGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATCGCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTGTCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGACGTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTGGACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACAGCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGCTACATGCACTCGCGTGTGGTGGCCAACTCGGAGATCGCCTTCTATGGGGGCCATGAGGTGGGGCAGGTTGGGGTGCCGGGCACGGAGGGAAGCGTGTGGCAGGGAGGCCCGGGGGCAGGCAGCCGTGAGCGGTGGGGACAGTCTGGGGCGGGCCGGGGCTGATGCCAAAGGTGTGGGCAGGCCATGGGAGAGCCGGGCTGGGGTGGGCAGGGCCTTTGGGCAGCCGTGGACTCAGGCGCGGCAGTGGAGAGGCAGGAAGGCTGGGTGGGGACTGTCCTGTGCTGGTTGCCTGCACGCTCGAGGCCACTTCTGCTTCCTCTCCTCCTCAAGGAGGTTGTCCTGGCCTTAGAGCTGCGATCCTAGCGGTTTGAGCCTCGAGAGCTCCTGCCCGCCCCACTCCTGCAGCCAGCCAGGAGGAGACGCCTGCCATTCATGAGCGGGGACCGAGGGACGCAGCCTGCTGCCTAGCCCCTCCTGGGCCCTTGGGCCCTTTGAAGGCCGGCGTCCAGCAGAGCTGGCTGGCCAGGCAGGCCGGCATTATGGGCATGACTCAGCCCAAGCGGAGGTTAATGAGCAGCGCCCAGCACAGCAGTGGGACTTGGGGTCAAGGCCACCCCCGCCTGAGCCCACAGGCCTGCCTGGCTACCAACTGGCTCAGCTGCCTTCCCGGGCCCCCAGACCAGAGATGCCGGGCCCAGGCCGCCACTGCGGCGGGACACACTTCCTGCTCCTGGCGTGGCTGTCCTTCCAACCCTGTCTGTCTCCTGGCTCCCTGGTGGGCCGGGGCCGGCGGGCCAGACAGGCGCTGGGAAAGGTTACTCCAGGTCAATGCTCCCTTTATCTCGCCTCAGCCCCTCCCCTTCCTCGTGCCTGGGGTTGCAGCTGCCTTGGGCCCTGCTCTCTGCGACTCAGTTTCGGTTCCCCAGTGCTTCTTGGGAGGAGGGGCACAATGGCATCCATCCCCCGAAGGCCTGTGTGTGCTCCCTGGGTCAGGTGGCCTCTTGCCCTGGGACCTTGTCTCACTGGCTGTGCACCAGCAGAGAAGCAGGCTTGTCCCCGAATTCCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCNNN
|
pathogenic
| 340,491 |
Clinical significance of chromosome X, position 153729221, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAG
|
CCACGGAGAGGGGCATCCCGGGTGTGGGCCAGACTGCAGATTCAGAGAAAAGGCCCCTGGACTTCAGCCACCACCCTGGCTTCCCTCTCCTCTTCTCCCGCATGCTGGGCTGCAGGGCCTTGGCAAGCAGCTGCAGCCTTGGGCGAGGCGCTTGGCACATTCCCCGCAGCTACATTGTCAGCCTTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGN
|
benign
| 340,498 |
Determine if the mutation at chromosome X, position 153729404 in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Adrenoleukodystrophy']
|
TTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAATCTGTAGCTGCTAACAAATTGTCCTCCCTGAGTACCCTGTGTTTCTTTTTTTCTGGGTACTTTGATCACTTTCTTTCTTTTTGGCATTCTGCAGTTTCACTATGACATG
|
TTGGCTGGCACCCCTGCCAGCTCCCAGCACGAGTCTGGATTGCCAGGGTGCTTGCTTCAGGAATGGGAGATCGGGCTTGCAGGGAGCTCAGCTGTGCAGGCCGACCTGGGTGGCGGGGGCAGAAGAGAGATCACTGGTTCTTTGAAGGCCTTCGTCCGGGCTAGCTTCAGGAAGTAGAGAGATTACTGGTTCTTTGAAGGGCTAGCTTCAGGAAGTAGCACGTTGGCCAAGAGGGTTTGTTGGCCAGGGCAGGAGGGCCCGGTGTGCATTCACGGCCTGTCTGCATAGGCCTCGGCTGGAAAGCTGTGTGGGGTGAGAGGACCCTCGGGTAGCATGTGGCCCATGGCAGTCCCACTGGCTGATGTCCCCGTGGACACTGGCCTAGGCTCAGATCAGGGCAGAAGCAGCTGACTGGCTGGAGGGCACATAGCAGAGTATTCTGTCCTTTCTGGGATTGCCGCGAGGAGGCTTATTGAAACGCACATGCACACGATCTCTTGTTTGAGAACAAAGTAAAGCTCTCTTGATAAGTCTAAGCATCATTTACAAGAATGTGGTTCTTCTGGCAGCTCTGCCAGTGTGGTCCAAATTCCCACACTGGTTGCCACCATCAGGCTGTATGGGCTTGGGCAGGTCACTTTGCCTCCCTGGGCTTCAGTGTTCTGTGTACAGTGGGCACGTGAATACACATGCAGTGGGATGTGGGGAGAATCAAATGCAGAGACGTGAAAGCACTTGGCAAACAGTGGCAGGCTAGGCAGCTGTCATCAGACGGCTGTGGGGAGGCAAGGCTGGGGTGCGTGCCCCTGGACTGAGCCCAGAAATTCACAACCCCTTGGCTACCTTGCTGGGAGCACTTCCCAACACCTCCCATCTCCCCCGCCTGTCTGACTGCTGCTGCCACCTCTTCCCTGCGGCTGTCCCTTTCCCCACCTGCTGGTGTCCTGACATAGTGGTGGCCAGTGCAGGAAGGGGGACAGAAGGACAGGGGAGGCCTACCCACTGCTGAGGGAGCAAGGTCCAGGCTCAGCAGTGGGGACATCCACTGGGGCGAGTCCTGTAGGGCCCAGCTCAGGAGCGCATCCTCCTGGTTTCAGTGGGAAAATGCCATGCAAATTTCTCACCAAAAGGAAGTGTGGGAAAGTTGAGGGGAAAGAGGGCGTAAATAGGCCCAGACTGTTGAACCGAGTTTTTCAGAACCAAGAGACAGGGTTTCACTGTGCTGCCCAGGCTGGGGTGCAGTGGCGCCATCACTGCAGCTTCAAACTCCAGGGCTCCCGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTTTTTTAATTATTTTTGGTAGAGACAGCATCTCGCCGTGTTGGCCAGGCTGGTCTCCAACTCCTGGGCTCAGGCAATCCTCCCACCTCAGCCTCTCAAAGTGCTGGGATTGCAGGTGTGAGCTACTGCACTCAGCCCAAGAGCACTGCCTTTTGCTGTCCTGCGCTGCTCTTTGCTTAGTTTAGGGGGGGAAATTAGAGCTGATGGATGATCTCTCCGAGCCAGGAGGAGGGGGCTGGCAGGGAGCCCAAAGAAATGGGCTCAGCAGAGGACAGAAACAAGGTGACTAGAGAGGGAGTGGAGAGGGGACGGGAGCCGCACTGTGACATCAGCCAGTCCCTTATACCCCCTTACACCTTGAGTTTGAGACCTGGCCCCACCCAATCGTAACCTCTGGCTCTCGGCCTTCTGATGGCCACCATGGCACAGCGTGTGTGAGTGGCACTGGGAGACCCTGACCATCGCCCCCACGGGAGCTGCCCCTGTGCATGGCCAGGAAGCCTCTCTGTGTCTGTCACCCCCCGCAGGTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATCCTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGCGCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGTCAGGTGAGACCCAGGGCTCCAAGAGGATCCAGGCCAGGGGCCTGTCCCCCATACCGCTGGGTGCTGAGCTCACGAGGGCCCAACTCAGCCAGCCCGCCGCCCACTTCTGCTGCCGGGGCCACCGAGGCCCTGCTGCCAGCCTTGATGCTTTCAGAGGTTGAGCTCGCCTTGCCCCTCCTTGTTGCCTTTTGCCCTGCGCGCACCTCACGCCCTTTGTTACCACTCAGACAAGCCCAGGACTGCAAGTCAGGAACACTACATGTCACTTCTCCAGGCACAGATACCCTCACCCACCTGTCCCTGTCCTCAACCCAACTGCGACTTAGAGGTGGGAGAATGTGCGGAGTACCTGGAGTGAGCCCCTTCATCACTCCAGCCTTGGTTTCCTCGCCCTGAAACAGCTCTTGCACCCTAAGGTGTTTTAGAGGAGTGGGAAGCCTGTTCTACCTGTTATTTTAGTGATAAGATTAAATGTTTAGGTTTCTGCATTCCTGTTGTTTTTGTTTGTTTGTTTTATTTTCTTTTTGGCTTTTGAAACAGGAGTCTGACTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGGTCCTCCCACTTCAGTCTCCCCAGTCGCTGGGACTACAGGCACAAGCCGCCGTACCTGGCTAATTTTAATATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCCAGACTGGTCTCGAACTCCTGGTCAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCGCGCCCGGCCTGCATTCCTGTTTTGTTCCTCTGCCGGATTGCAACTTCTGCATTTGATTTTTAGTCCATTAGTGGTCACCCTTTAAAAGGTCAACACGCAGCCGGGCGCGGGGGCTCCCGCCTGGCATCCCAGCACTTTGGGAGGGTGAGGCGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAATTTAGCCGGGCGCGGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGACGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAGTGAGCCCAGATAGCGCCACTGCACTCCAGCCTGGGCGAAAGAACGAGACTTCGTCTCAAATAAAAATAAAAATAAAAAATAAAAGATCAACACGCATACTTGTTAGGTTAATCAATAGCTCCGCCTTCTCCTGGACCTTAGAACGCAGAAGCAGCCCCGTGGGGCATGGCATCATAGCCCAGCCAAGAGTTGGATTTGTACCTAGTTTTTCCTCTTTGCTATCGCCTTATCCACACGTGTTGAAACTCACTCGCATGTTTGCTGAGTTCTGTGCTCACCATTTCGTTCCTACATCTCAATTTCTCTTCTATGTTCTGTTATCTTCCTCCAGATAGACATGTTTTTAGTTTTTTGTTTGTTTGTTTTTTAACTCACAACTATGCTCAGGACAAACAGTCATCAGTGCTTCTAGTTGTGGTTGGTTTTTAAAAAAGGTTCTTTCAGCAAGGGTTTTGTCATGGGAAATTCTTGATTATTTTATTGTAATTCTTTGTGTTGTTTAGTTTTTTGTTTGTTTGTTTGTTTTTTGTAGAGGCAGGTTCTCGCTGTGTTGCCCAGGCTAGTGTGGAACTCCTGGGCTCAAGCGGTCCTCCCGCATTAGCCTCTCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGGCTGTTGTCATTCTTGATTATTTTTGTTGAAAATGTTTCTATTTCACCCTTATTCCCAAGCTAAAGTTGAGTTGCGCAATGGAGTCTAGGTGGACTGTTCTTTTCTCTCAGCCCTTTCACAATGTCTCATTGTCTCCCTGCTTCTTCTGTAGCTGCTGACAAATCTGTAGCTGCTAACAAATTGTCCTCCCTGAGTACCCTGTGTTTCTTTTTTTCTGGGTACTTTGATCACTTTCTTTCTTTTTGGCATTCTGCAGTTTCACTATGACATGNN
|
pathogenic
| 340,508 |
Determine whether the variant at chromosome X, position 153736139, in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Adrenoleukodystrophy']
|
TGTGGGGAATCTAAGGATCAAGAAACTGAGAGTCAAGGCCATTGATGAGGGTCAGGGGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCA
|
TGTGGGGAATCTAAGGATCAAGAAACTGAGAGTCAAGGCCATTGATGAGGGTCAGGGGTGCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCAN
|
pathogenic
| 340,511 |
Determine whether the variant at chromosome X, position 153736198, in gene ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Adrenoleukodystrophy', 'Inborn_genetic_diseases']
|
GCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCA
|
GCTGCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCANNNNNNNN
|
pathogenic
| 340,515 |
Is the genetic change at chromosome X, position 153736201, within gene ABCD1 (ATP binding cassette subfamily D member 1) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Adrenoleukodystrophy']
|
GCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGG
|
GCCACGGGGCCTAGAGTGTGACAGAAAAGCAAATTAAGACAGGAGCAGCTCCTGGGAGAAGCAGACACCAAACAATACGGCTGCTGGCCCAGAGGTCAAAAACCATGGCCTAGAGGGGGCGGTCAGGAAGTGGGACATTAGGCCGGGCGTGGTGGCCCATGCCTGCAATCCCAGCATCTTTGGAGGCCAAGGCAAGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAGACTTCGTCTCTACTAAAAATACAAAAAAAATTCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGNNNN
|
pathogenic
| 340,516 |
Gene ABCD1 (ATP binding cassette subfamily D member 1) variant at chromosome position 153736478 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Adrenoleukodystrophy']
|
TCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCT
|
TCGCTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTN
|
pathogenic
| 340,530 |
The chromosome X, position 153736484 genetic variant in gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Adrenoleukodystrophy']
|
GGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCC
|
GGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCCCTTGAACCTGGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAAAAGAAAGTTGGCGTTTCAAAGCCAAACAGCTCTGGGCGTTGGATGACAAAGTTCAGATGTGCCCCAGGAGGGGCGACATCAGTGGTGCAGGACAGAGGGCCGGTGGAAGGAGCTGGCTGTACGTAGAAACAAAACCAGATGCCTACTGGTGCATTTAAAAATCAACGTTATTGAGACGTAATTAACATACTATACAATTCTTCCTTTTCCATGTACAGTTTAAATTCATTCACAGAGTTGTGCAGCCATCATCACTAACTCCAGAATGTTTTATTTTTATTTTATCCCCCAAAGAAACCCCAGACCCATGAACAGTCACTCCTCATTCCCTCTCTCCAGCCCCTGGCACCCACTCATCTGCTTCCTGTCTCTGTGGATTTGCCTATCTGGACATGTCCTAGAAATGGAATCATGTGCTCTGTGGCATTTTGTGACTAGCTTCCTTCACTGAGCATCATGGTTTCAAGATTCGTCCATGTCATAAGATGAATCAGTCCTTCATTCCTTTTCATGGCTGAATAATATTCCATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTC
|
pathogenic
| 340,531 |
Evaluate if the mutation on chromosome X at position 153737177 in ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['ABCD1-related_disorder', 'Adrenoleukodystrophy']
|
ATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTG
|
ATTGTGTGCATAGACCACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGNN
|
pathogenic
| 340,537 |
Classify the chromosome X variant at position 153737192 affecting gene ABCD1 (ATP binding cassette subfamily D member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Adrenoleukodystrophy']
|
CACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTG
|
CACAATTTCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGN
|
pathogenic
| 340,538 |
Considering the genetic mutation at chromosome X, position 153737199, impacting ABCD1 (ATP binding cassette subfamily D member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Adrenoleukodystrophy', 'likely other unspecified diseases']
|
TCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCT
|
TCTTTATCCATTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTN
|
pathogenic
| 340,539 |
Clinical classification of chromosome X, position 153737209, gene ABCD1 (ATP binding cassette subfamily D member 1): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Adrenoleukodystrophy']
|
TTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGA
|
TTCATCCCTTGATGGACATTTTGGGTTTCTTCATGTTTTGGCTATTGTGAATAACACTGCTGTGAACATCCATGGACAAGTCTCTATGTGTGCAGATATTTTCGTTTCTCCTGGGTGTGTAGCTAGGAGTAGAATTGCCAGGTCACATGGTAACTGGACGTTTCACTTTTTGAGGAGCTGCGAGACTGTTCTCCACAGTGGCTGCCCCATTTTACCTTCCCGCCAGCAGTGTTGGAGGGTTCCACCTTTTCATCGTGGCTAGCACTGGTTATCATCTCCTTTGTATTCTAGCCACCTAGTGGGTGTGAGGCAGTATCTCTTGGTGGTTTTGATTTGCATTTCCCTGATGACTAATGACGCTGAGCCTCTTTTGATGTGTTGAGTGGCCATTTGTATGTCTTCTTTGGAGAAATGTCTGTTCACGTCCTTCGCCCATGTGTGATCGGGTTATCTCTGTCGCTGAGTTGTAAAAGCTCTTTGTATATTCTGGATACTGCACCCTCATCAGATGTGTGGTTCACCAGTCCAGAGTTTTCTCCCAGTCTGTAGGTTGTCTTTTTCACTGTCTCGATATTGTCCTTTGGTGCACAAAAGTGTTGAGTTGAATGAGGTTCAGTTGATCTGTTTTTCTCTTGTTGCTCATGCTTTTGGTGTCCTAGTGAAGGAACTATTGCCATATCCAAGGTCGTGAAGTTTTATCCCATTTTCTTCTGAGAGTTTCATACTTTGGGCCACACTACACATCAGCCTGTGATGTGCTCTGGGTTGGTTTGTCTGTATGGTGTGAGGGGTCCCTCTCCTGCACATAGAGAGAAAGAGAGAGAGAGCTGGTTGCCCCGGCACCATTTGCAGAAGAGCCTCGCCTTTCTCTCCAGCGGCTCATTTTTGACTTTCCGCTGTCTCTGCCCTGCCCCTCCCCGCCCCGCCACCCACCCCTCTGGGGCTTTGCAGATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAGCGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAGCGGATCATGTCGTCGTACAAGGAGGTACCCCTGGCCCAGCCCCACCCTTGCCATCCTTGCCATGCTTCTCTCCCTGCAACTGGCAGGGGCTGAGCCAGGGTCACCCTCCCTCAGGTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATGAGTGACCCCGCCCCTGCTGCTGCTGCAGGTGCTGACCTGCTGCCCCAGCTCCTCCTATTCCCGCTCCCTCACTCAGGGACCTCCATGTGCTTCTGGCCCATCCCAGTCCACCCAGGACGGGAGGGCTGCCGGGCAGGGTCTTTGAGGACTTCGGCCTGGTCGAGCTGGGCCCCTGGAGGGTTTCCTGCAGAGAGGTGCTGGTCCGCCCGCCTTCCTTCCCAGACAGTAGCTGCCGGCCACCGTACTGACTCGCCCTTTGAGGGCCTCAGCCTGGATTATTCATTCAAAACAAGGGGGATGTGGTCCCCTCACCCATGCAGGACAGCAAGAGAAAGTTCCAGTCAGTGTGCCAGCTGCTGGCTGCCACGGGAGGCAGGTGCTGCAGAAGGGAGTGGCGGCCCAGGGCACTGTATTAGACACTGGGGGAAGAGTTCAGCTTGTTGGAAGACCTGGCTGTGTTCCCTAGGGACCCTGGACCACAGGCTGCTGGTCAGGAACCAGCTGGCATGCTGCCAGGGATGGGAATGAGGGCGTGCAGCCAGGGGCACGCAGACTCCCCAGAATGCAGAGGGGTCGCCACCACTCCCTCTCCACCCCAGCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCCATCGTCAACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGGGTAGGTCCAGCGGGGAGGGCGCCAGCCACGCACATATGCAAGCCTCAGCCCTTGGCTTCCCGCCTGTCTGTGCTGGCAACAGCCATTGTCCCTAGATGTACGTGGCAGGTGGGCCAAGGTCAAGGTGAGAGACCAACGTGTCTCTGACTGTTCATCCTGGGGCAACAGAGGCAGGGCTCATAAAAGAGACTAGTGATACCAGGATTGACCAAGGTTCACCCCGGCGTTCCTGGCCCTATCATCTGATGCCAACTCCCCACACTCCTAAGAAAGCCAAGACCCGGGTGGGGGGGCTCTGGTTCAAACCTTGCCGCTCGACCTCCCTCGGAAGGCCACAGCAAGGAATCCACAGATCACCTGTGTCCCCAGCCAGGGGTTTGGACAGGGCTGGGGAGTAATGGAGTGAGGGGGAGACTGGGGTGGAGGGACAGGTAGAGAAGTGACAAGGAATCACTCATTCATTCACTCATTTAACCAATGTGCCCTGAACTCTGAGCCGGGCACCAGAAACCCGAGGTAAATCAGGAGACCTGCACTCAGGGAGTCTTCACTGTGGAGGGGCACTAAAGTGTTACAAAGGGTCTCCAGGTAGACAGCTGTTCAAGGGACAGTGGGGGTCACAAGAAGAGTGGTCAGAGTCCCTGGGGGTGGTGGGGGTGGGATGAAGCCTTGCCCAGGAGTTGCTGTGAGCGAGTGGGCAGGCAGCTGAGGGTAGAGGAGTGAGGGGCCGTGGGCCTGAGGGGCAGGTCACGCAGGAGGAAGCAGAGAGGAGGGGCATGCCAGGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTG
|
pathogenic
| 340,541 |
A genetic variant at chromosome X, position 153740082, affecting gene ABCD1 (ATP binding cassette subfamily D member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
GGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCAC
|
GGGAGGAGGGGGCCGGCACAGGTGGTTACCCCTCACCGCTCGCAGCGGCCCCTCCTAGGATGTCGGGGGAGCTGATCACCAGTGAGTCCAAGGAAGGTGGTTTCCAGGCTGGCCCCGGGCAGCACAAGCAGGCAGGGGCAGCGGGCAAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACN
|
benign
| 340,548 |
Gene mutation in ABCD1 (ATP binding cassette subfamily D member 1) at chromosome X, position 153740228—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Adrenoleukodystrophy']
|
AAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTG
|
AAGCTCATGGGGCCCCTGCGCGCAGGGCCACATATGCTCAGGGAGCCGGGTATGCGAGATGGGGCAAGGCCCAGGCCCCACCCTTCAGGAGGGGACAGTCAGGTGGCTTCATTAGCATCCTGTGGCTGCGGTCACAAAGCGTTACAAACTTTGAGTGGCTTTCCCAGCAGAGATGGCCTCTCTCCCGGCTCGGGGAATAGCAGTCCGAGAGGAAGGCGCAGGCAGGGCGGGCTTCTGCCAAGGACCGAGAAGGTGCCTCCGCTCGGGGCCTCTGTCCCAGCTTCTGCTCTGCTGCCCATCTGCGGGCTTCCCTGGCTTCTGCCACGGCAGGTCGGCCTCAGCCTCTGTCTCCACACGGCGCTCTCCCTCTGGGTGTGTCCGTGTCTCCGTCTCCCCTTTCTGTCAGGACACAGGTCACACTGCATTAGGGCCCACCCCTCTGCAGAATGACCTCATGCAGACCTAACTCATCACGTCCGCAATGACCCTGTTTCCAAATAAGCTCACACTCCGAGGTAGTGGGGATTAGGGTTCCCACATAGGAATTTCAGAGGACAGAGTTCCACCCATGACACTGCCTGAGGTAAGCTAAAGACCACGGCCTCAAGTCTTCCCAGGAGCCCCGTGTAGCATTGTTGTTGTTACCGTGAACTTCACTGACTCCAGGCCCCTGGCCTCCTCCCTGCACACAGCCCGCCTCCAGCCTGGCCGGCATTTTCCCAAAGTAGGCATTTCCTAGCTCCAGCGAGGACCATGGAGTCAGTGAATTGAGGAGCCTGAGGTCCATGATGCAGAGCCCAGGGGCCACTGTGGCATCTCTGGGCCACTCTGGCACCTGGGGAGGCAGTGGGGTCTGTACTGTCAGTCTAGAGACATAAAGAAAGTGCTTTTTGGGCCGGGCGTGGTCGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCGCTTAAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAACCCCGTCTCTACAGAAATTTTTAAAAATACACAAATAAGCCAAGTGTGGTGGCGGTGCCTGTAGTTCTAGCCACTTGAAAAAAAAGGCTAAAGTGAGAGGGTCTCTTGAGCCCAGGAGGTTGAGCCTGCAGTGAGCCATGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGGCCCCGTCTCAAAAAGAAAAGAAAGAAACTGCCTTTTGTCCCCAGTGACTCAGGAGGCCAAGGTGAGAGAGTCGCTTGAGGCCAAGAGTTTGAGACCAGCCTGAGTAACATAGCAAGACCCTGTCTCTAAAACAACATTTAAAAATTAGCCAGGCATGGTGGCGTGCATCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACTGCGGTGAGCTGTGATCATACCGCTGCACTCCAGCCTGGGCAACAGAGTGAGGTCTCGTCTCTTGAAAACAAAGTGCCTTTCAGGGCAGTTCCTTAAAGGGGGCTGACAGTTGACCCTGCACTTGGATTCCTGGTGAAGTGGGAGTCGGATGGGACTGAGGACGGCGCTGGCTGTGTTGGAACACACCTACTCATTCAGCTGTGGCAGAATAGGCCCTTCCTCTTGTGCTGGCACCATGTTCTCCAGGCGTGTCAGGGCCTGAGGACTGGGCCGGGGCTTGTCCATTCCTGTGTCCTGGGCCAGGCATTTAGCGAGAGCCAAATTTAGCTAGGGCTGTGGACGCTGGACCCCATCCCCCAGGCCCTGCTGTCCCTTATCAAGAGATCAAGAATGGCCTGCGTGCTGGCCTCGGGCATTGGGAGCCTCTCAAGGCTGGTCAGGAGGCCATAGGGTACGGGAAGGGGCCTGCGCTCTCTGGCGTCAGCGGCTGTTGCCCCTGCAGGTGGAGGAAGGCATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTCTACATCCGCAGAGGTAAGGAAGCCCGTGCGCCTCTCCTCCACCTCTTCCTGCCTGTGCGCTCACACATGGCTTCCTGCAGAGGCCCAGGAAGTGGTGAAGAGTCAGCACCTCAGGAGAGGACACTGAGGCACTGTCCCCAGAGCCAGAGACGGGCTGTGGTTCCTGCTCCCTCCAAACCCGCCCGATCCACTGCCCTGTTTTGGATCTGTGTGGGGTGTGTGCACGGGCGGCGATGTGAGCGTGTGGATGCGTGTGAGCGTGGCATGTGGACACTGCCTGGGAGGCGCAGAGTATCTTGGGGGAGGCAGAGCCGGCCCTTCCCTCCGTGGACACCCAGCTTTCCCACAGGCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTGGACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAGGTAGGAGGCCTGGGGCTGGCAGCCACCCTTTGTCCCACCCTGGCCTCTCCCTTGGCCTCCAGGGAGTGAAGATTACCTCAACATCCAGAGTCTAAAGTGCCAGGTGCCACGGGGCGGGGCAGAGGCTGCTACCAGGGAGGACCAACACCACACAGATGGCCCCAGGTGCTCTAGGGAAGGGGGCACCTAGCAGGGATGTGCACCTCACTGGGGGACCCAGGATACCCTCTCCCAGAGAAAAGAGGTCTGAGCTGAGCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGN
|
pathogenic
| 340,559 |
Is the genetic change at chromosome X, position 153743023, within gene ABCD1 (ATP binding cassette subfamily D member 1) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Adrenoleukodystrophy']
|
GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAG
|
GCCCTGCAGAATGCTGAGTGGTTACCCCGTCCGGAAGCCAGGGGCAGCAGGGCGGAGTGCGTTCCGAAGGCTTGGTGGTGCGAGAGGCTGGCTCACAGAGGGCCCTCGGGACCAGGCGGGAGCCTAGGCTTTCCCTGAGCAGGATCAGACGCTCTTGGAAGGACCATGGGGTGGTGGGCAGGGGCAGCCTGGGAGGGGCAGGCACATGTGTGCAGTGATGGCTACTGTCAAGAGGTTTGTGCAGACGCTTGGAGGGGGCTGGGGCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGNNNN
|
pathogenic
| 340,583 |
Benign or pathogenic: chromosome X, position 153743286, gene ABCD1 (ATP binding cassette subfamily D member 1) variant? Disease(s) if pathogenic?
|
pathogenic; ['Adrenoleukodystrophy']
|
GCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCA
|
GCCAGCAGAGTCAGGTGGATTCAGAGATGAGTTCACTGAAAAGGAGGCCAGACTGAGCTGTTGTCTTGTCCTGGGCTTATCAAGGAATACTGCTTGTCCACAGTGTCTGTCGGGCCGGAAGAGCGGAGGAGGAGAGGGGGCTGCAGCTACAGGGACACAGTAGATGGAGTGTTCAGTTCTGTCTTTGAATTCTGAGCCTCTGGGTTCTGCTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCAN
|
pathogenic
| 340,596 |
Evaluate if the mutation on chromosome X at position 153743495 in ABCD1 (ATP binding cassette subfamily D member 1) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Adrenoleukodystrophy']
|
CTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACC
|
CTTCCAGCCTGCACTGCTGGGTGCGAGATGGCCCTGGGCAAGGACCTCGCCTTGCTGGGGCTCCCCTTCACGGTTCAAGGGCACGGGCACCAAGCCCTCCCTCGGTGGCAACATGAGAAGAAGTGGCTCCTGCAGGAAATGGCCGGGGTGTTGTCACCTGCCTGTGGAGGAAGCGGGGACACAGGTGGCAATGGCAGTGGAGCAGCCCCTGGCCCGGCCCTGCCTCTTGCTCCTGCTGCCCTCAGCCTGGGAGCACGTGGCCCCTCCCGCCTCTGTGGCAGCCTGAATGCCCAGGGCCTGTGGCCGGCCAGCATGAGCCATTAGGATGGAGTTGAGCTGCGAGGAACAGAACGGGCCTCCCCGCAATAGTGGCTAAGATCATCTGTGAGTTTATCCTACTGAGCTGTTAGGTCCCAAGAGAGCCAGGCCACGGTTGCCAGGGCTGGCCCTGCTCTGTGAAGGCCCCAGGGCTCGAGGATTTTCTACCAGGTCACTCTGCTGTGTTTGGCCTCCGTTCCCAAAGTCACCTCATGATCCAGGAGGGCTGCTGCAGCCCTCACATCATGTCCCAGGCTGTAGGATGGAGGAAGTAGAAGGGAAGGGGCAAAAGGTATGTGCCTTCTTTTAAGGAAGGTTCCAGAAGCCGCCATATTGAATACTTACAGTTATATCTCATTGGCCACAACTTAGTCTCATGCTCACACCTCATCACAAGGCCACCTGGGAAGCGTAATCTCTACTCTGGGTGGCCATATGCCCTGTTGCCACTTCTAGCCCTGGGCCGCTGGGGAAGGCAGCATGGGCGAGAAGACAGGAAGGGCCGCTTCTGCCGCAGCGCCCCGACCTAATGGAGCAGCCGGCTCACCTGCTCGTTCAAGCAGCCCACTCGAGCCTTGCCAAAGTGCTGACACGGGGCAGTGACAGGAGGCCCAACCCCTGTGGGTGACAAGCCCCCGGTCTGGGGAGAGCACTCAGGCCGCTCTGGAGCTCTGTGCCAAGGAACTGTATGGGTGCCCTGGGGCTGCCATAAACCGCAGGGATGGATTGTCTCCTAGATCCAGCAGTCCGAGATCCAGGTGCCAGCAGGGTGGGCTCCTTCCGGGTGCCATGACAGAAGGATGTGTTCCAGGCCTCTGTCCTCGGCTCGCAGATGGTCCACTTCTCCCTGTATATCTTCACCTCATGTTCCCCTGTGCATGTCTTCTGCCCACACACCCCCTTTTTATGAGGACACAGTCATATTGAATTAGGGTCCACTCTGATGACCTCATCTTAGTGTGATCACCTCTGCGAAGGCCCTGTCTCCAAATAAGGTCACACTGAAGTGTTGGGGCTTGGACTCCACCGTATCTCTTCTGGGGGAAGGCACGATTCCAGTCCCCACTCCTCCATGATTAATGCCTGTCAGACAGACAAGGACGCAGAGGCACAGGGGCCCTGTCGTCACAGCTAGCTCATTCCCGCAGCTCCCCCAGCTCCCCGGCTGGCCCCCGGGTCTGGGTGCTGGTGGAACTGAGCCAAGACCATTGCCCCCGCCTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTACCACAGGTGAGCACTCCGGGCCGGCAGGCTCCCTGGGGTCCCCTGGAAGGGGAAGTAGCAGCTGTGGGGAGGCCTGGGCTCAGTGGAGCCTGAGCCGGGCTGGGGTGTTGGGCCCTGGAGGGTGCACAGACTCTCCTCTCGGCCCGGACCCCCAGGCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAAGGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGGCCCTCCCTGTGGTAGGTGCCCTGTCTCCCTGCCTGGGGTCGGTGGGAGTGGCTGCCTGAGGGGAGGAGGTGGCCTGGCGGGCCCGGCAGCAGCAGGCGGCTGTCATCAGCAGCCCCCGTGCCGTGCCCCTGACCCTGTCCCTCTCCTGGCCAGGAAATACCACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAGTTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAGCAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTGGGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTCCAGGGTGCCTCCACCTGACACAACCGTCCCCGGCCCCTGCCCCGCCCCCAAGCTCGGATCACATGAAGGAGACAGCAGCACCCACCCATGCACGCACCCCGCCCCTGCATGCCTGGCCCCTCCTCCTAGAAAACCCTTCCCGCCCTCGGGAAAGTAGATGTGGAGGGTGGCGCCCTGCGTAACCCTCGCCCTGTCCCTCCCACTCCCTGGGGGCGCTGTTCCACAGTGACTGGGCCCTGTCCAGGGCAGTGAGTCCTCTACTTTGCTCCGTGGAGGAAGCTGGGGTACAAGGGGCCCAGTGCTGGCCACACAGCAGCGCAGCCGAGCCCCAGGAGCCCGTCAGGCCACAGCCCCTGGCACTGCAGGTGGCCTCCCTCCAGAGACTCGAGTCCCCATGATTCCCTCCTCGTCAGTCTCTCAAAGACCCCATGGTCCATCCCCTGAGGGTGGTCAGCCAAGGCTCCCGTTCCGTGGGATGCCATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGCCTCACCTGCATCCTCTCCCCCACAAGAGCCCCAAAGATCCCACGGGAGAGGGGAGAGGGACGCACAGCACTGCCTGCCAAGCGAGAATGCAGGCCCCGCCCCCTCGGCCCCTCACCACCTCTTTCTACAGCCTAATTTATTGGATTCCCTATTCGTAGCCATCTCCGTGGCCAATGTGACTACCGTGCCAGCAGCGGGGGCGGCCCAGCCTCTGAGTCCCGTGGGGCCCCGGCTCCCACCGGTGCCAAACCCAGCCCCTGCGGCCGTCACCCCGCCAGCCTACACTGCCAGCCGCCACCGGGGCACACGGGCCTCTGCTTGCCAGCCAGGAGTGCGGACACCATGTTCCCAGCTCAGTGCCAAAGAGGGGTCACCAGGGGGAGCTGTCTGCGGAGCCAGCGCCTGCCCGAGAGAGACCCCACCGCCACCGTGTGCCTTTCCCGGGCCCTCAGCCCTCGGGCCGGGCACCACCCCCAGTCCCCCCAGTAAAAGCCTCCACTGGCAAATGCAGTCCTTCCTCCCTGCCTCAGAGCCTGGTGGTGTCTGCTGTGGGTCTCGAGGAGAGATGGAGGAGAGGGAGTGGGTTGCCTGTGGGGGAAAGAGTGAGTTTGGGAAAGGAGTGGGCCTGACCCCCAAGCCCCTCCGAGGGGGAAAGTCACCAGAAGACATGGTCCAGCATGCCCTCCGCCGAGCCTCACGCCAATGCTCTTAGGATTCCTGTGACGGTGGCGGGGCGGAACCTGCAACAACATTGCACAGAAATACTGGCTGAGCCCAAATAGGACTAGGGGAGGGGATCATGCTGGTCCCTGTGGGAGGAGCACGAAGGCAAGAGAAGGGATGTCTAAGCTGCCACACAGGGTGCTGCTGGCCCTTCTAGGGAGAGGCGGCCACTTGTGCAGGGGCCTGGGGGGAACTGGGAGCACAGCGCAGGGTGTTCGTGCTGCATGCAGGGGAAGGGAGGGCAGGGGAAGGGAGGGCTGCGGCCGGCGGGCCTTGGAGGCCACACTACAGAGACAGGACTTAGCCCAGAGGCCACCGAGGAGCTTTCAGCAACAGGGAAGCAGTGTCGAGTACTGCAGGCCACGTGGCTGCATGTGAGGGTGGCTGGTGGGAATAGGGTGCGGCAGCCCATCTGGCCTCAGAGGCACGAGAACTGAGAACAGCTGTGCGGCCATACCTTTATGCATGGATGGCCACAGCCTCCCAAAGGTGGGGCAGCCTGAGTGTTCATCAACAGACAAATGGACAAACAGCCTGTCCATAAGGCACAGTGCCATTCTGCCATAACACGACAGATAGACCNN
|
pathogenic
| 340,604 |
Considering the genetic mutation at chromosome X, position 153864035, impacting L1CAM (L1 cell adhesion molecule): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
GAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACGAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGA
|
GAGGCCACTTGGATGTTGTGTGGTGGGTACCGAAGGCAGCGTGTGTATGGAGCTCCTGAAAGCCGGCCATGGGGTGGGCTGGGCGGCGGGAAGAGGCGGTGCTGCCAGAGTGCGATGCTGGGAGTGGGGGGACTCTGGGCTCTCCAGATGGCCTCCCCTGCCCCCGCGGCCAGTTTGCCCGGCTCCCATCCCGGTTGGAGCAGAGATGGCAAAGAAAAGACAGCAGATGGTGGGGACACCGAGTTCTGTTCCCAGTCCCAGCCAGGCTGGCTGGGGAGTGGCTGGGGGAGGGGGAAGGTGCCAACCCTGGTCCTGAGGAGACCCCACCATGTCTGCCCCCAGTCAGGGAGCAAGAAAGACAGCATTTCGGAGACCCTTTCGGGCCACCCCTACTTCTTCTCCCCCAAACCACAGCCTCTCTGCCCAAATGGGCTGGCAAAACAGCACCCAAAGGCCCCTGGCATGTGGGAGATCTGCCCAAGCTGGGGCAGAGCAGCGTGTGCCCAGGAAGGGGTGCAGCTGGGTTTTGGCAATAAAGTGGGGACCGGGTGGTAGGAAGGGGATCCGAGGCAGCAAGTTCTCCTCTGCCCCAACTCCAGCCTCCCATGGGCCTGCTGGAGAGGGAGGGGCCTGGATCCCAAGGCCAGGGGCACAGCATCTCCTGTCCTGGACTCCACTATTCTAGGGCCACGGCAGGGTTGATGGGGGAAGTGGCCCCTGAGCTGTCATTGCCCCCTGCCGCCTCCTTCTCCTTCTTGCCACTGTACTGGCCAATGAACGAACCATCCTCGTTGAACTGAACATCCACGCTGCCCCCATAATCGGCCAGGCTGTCGTCACTGCCCAGGGGCTTGATGTCCCCGTTGAGCGATGGCTGGCTGCTGCCAAAGGCCTTCTCCTCGTTGTCACTGCAGAGGCACAGGGCAGGTGCGAGTGAGAGCACTGCCGAGCCCCTGCAGGAGCCTGGCTGGGGGTGAGGCAGACGCCCGCCTGCCTTCCATTTGTTTAGAATGCGCTCAGAAAGAGCAGCTCTGGCCACCCTGGCAGGCAGGTCTGGAGCTGTCATCTTTGGGCATTCCCCAGATCCTGGGGACTGTGAGGGAGAAAATGTGCGCTCGGCCAGGGGATTATGGGGCCTGGTTCCTGTCTGGGAAGCTGTCTGGGGCCTCCCTTGGGGAGAGGGGAGCAGTGAAGGTATCTGTGTGGAGAGGAGGGGCTGGGGCGTGTTGGCCTCTCCCTGAAATGAGGAGCTGCCGGGCCTGGGGGCTGGGAAGTGAGAGTCCTGTCAGAGCCCCGGCAGCCAGGGGACAATGGCACACCAGGCGCACATTGTCTATAGGGAGACCTTGCTGTTGGCCCCTCCCCACCGCCCCTGCCTTACCTCTCCAGGGACCTGAAGTCACCCGGCAGCACAGAGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAG
|
benign
| 340,674 |
For chromosome X, position 153865450, gene L1CAM (L1 cell adhesion molecule): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['MASA_syndrome', 'X-linked_hydrocephalus_syndrome']
|
AGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCC
|
AGAAGAGAGAGAGGGGGTGAGATGTGAAGGCCAGGGTGGAGCTGAGTGCCAGCACCCACTCCTGCCCCGGCTCACCTGTACTCGCCGAAGGTCTCATCTTTCATCGGTCGGGCCTCAGAGTCCACCTGGGTGTCCTCCTTATCCTTCACTGGAGACACAGAGAGGGACAGCTTCTTCTCCCGCCCCAGCCTGACCCGGGGCTCCAGGCCCCTCTACGCCCCGCACCCCCAGCACTCTGTCTCAACAGCGCCCAGAGGCAAGAGGCCTTGAAAGAAACCGCTCACCCCCTGCGGTCCAGCCACCACTTGCCTGTTGCCCCAACCCCGGCCTGGGAGGATGATCCCCCTGCCTGCCCCCACCATGCGCCTGTCATCTTGTGGGGAGCTCGGGGAATCCAGGAGGCCTTGCAGAAGGGTGGAAGGGGCGAGGTGCTCCTCTCTGCCCTCGGCTCCACCCCCGTCACGTGGGGCTCAGAGGCTACCTGAGTATTTGCCGCCCTTGCTGCGCTTGATGAAGCAGAGGATGAGCAGGACGAGGAGCAGGAGGATGATGGCACTCACAAAGCCGATGAACCAGCCCTCAGTGGCGAAGCCAGCAGGAGGGAGCCTCACGCGGCCTGAGGGTGAGACACCAGCCCCCCGTGCTGCCGCCCAAGCCAGAACCCGACCTGAGGCCCTGAAGTATGCTCTTAAAGTTGGGGCCCTCTGGGGGGCTAAGGAGTGACAGGGACAGGGAAAAGGGCATCTGCGGAAAGGGTATGAAAGGGGGCTGATTCGGGGACACCCAGATTCTGGGAGGAGAAGCAGACAGGAGCCGTGGAGGGAGCCTGGGCAGTAGTGGCCATTCAGGGGACAGAAGGACATGAATTGTGCAGCCCCCATGCTTCCCTGGCAGGTGATGGCGGGCCCCCGGCGCCTCACCTGTGCCATTGGTCTTCACAGCCATTTGGTGCCGGAACATCCTCTCCTTAAACAAGTGGATCTCGTAGTCAGTGTCAGGCTGCAGGTCCCACTGCGTGTAGGAGCTCTGGTTGTAGCTGACATACTGTGGCGAAAGGGAAGCCCCACCCTTCTCTTCTGCCAGGGAGAGAGGGTGGCAGCAGGGGTGAGTCGGAGTGCCAGGCAACCCCTCTGGCCCAGAGCCCCCTTCCCCACCACGCCCCAAGGCCCCCTTTCACGCTTACCTCCCAAGGCTTTGAACAAGATATGGAACCTGAAGTTGCACTGGCCCTCCTTGGGGACCCAGGAGACGACACTGTAGTTTTCACCCGCTGTGGCTGAGATGTTGCCAAAATCTGAGATCCCTGGGGGGATGCAGGGGAACGAGGAGAGTGTGGCAGCTGCCAGGAAGTCTAAGGCCCTCCCTCCTGGACCCGGCTGGCCGGGGCCTCCCTGTTGGCAGGTCATTCCTCCAGCTTACCAGACAAGGCCATAGTGCCTCCTTCCCGTACGATGGCTTCACCAGGGCCCTCTTTGGTGGTGGCCTGAAGCTGGAAGCGGTACCGCAGGTGGGGGCTGAGATCGGTCAGGTTGTGTGTCCGAAGTTCGGGGTCCCGAAGGTTGAAGGACAGTTGCCCCTTGCCCCCCTCATCCACTGTGGGGACAGACAGGGGTTGGCTGTGGCTGCAGCTCTGCCCCCTCCCCGTGGCCCCTCCACCTCCCTTCCCTGCTGGGGCGGCGCACGCACGGGGGTGGTAGGAGAGCACGTAGCCGGTGAGCACGCCGTTGTGGCTGAGTGGGGGCTGCCAGCGCAGCAGCAGGCTGGTGTTCGACTGGCACTCCAGGTGCAACGCCTCGGGGTGGCCAGGCACTGCAGGGCACAGAACCGAGTGGCAGGTAGGTCCTCGCCCAGGTCTGGGGAGGAGGGCAGGGGATGAGGCGTGGGGTGCAGGACTCACCTCCCTCTGGGGTGCTGAAGGTGAACTCGCTGGCGGGCCCCGATCCTCGCCCGTTAAAGGCCTGCACCTCCAGGTGGTAGGAGCTATAGGGCCGCAAGCCACTGAGGATGACACTGGTGGTGTTGGCGGGCACCACCACATGGTCTTTGTGGATGTCTCTTGCTGTGCTTCCTCTGACTGCCCTCCCTCCAGTACGTCACCTGCACAAGCGAACAGGAGACCTCGCAGGGGCAGAAGGCACCCAGCAGGGCCCCCAGCGCACACCCCCACCACCCTTAATGGGGACCCTCCTCTCAACCCAAGTCTTCCAGGAGAGCGGCTGGCAGGTGGCAAAGCCCCCTCACCATCCTGTCGCTTTACCTCAGTGATCACCCTCCTGGGCCCCCATGCCTTCAACCCTTACATTGTATCCGCGGAGGTGGCCCTTGACCTGGGCCAGGTCCACCGGCCGCCACTTGACCAGCACGGCACTTGAGTTGAGGATTTCAATGCCTTCCAGCTCAGGGATTGCCTGGGGGTCTGGAAACCACCAGTGACTTGGATAGAGCCATAGGCTCTCACCCCAGCCCTGAGGCCAGGCCCAAGCCCCTACACACAGAGAAGACGAATTCGGATATTTTATGAGGTACAGTTTGAGGAGGAGAGGTGTGTTTGCATGGTCTCAAGATCTCTTCCTGGACTGCTTATTAGTTGCAAAGGTGAAAATAGTAGCTTATACAAAGGAGAAACCATGGCTGGGCGTGATGGTTCACACCCGTATTCCCAACACTTTGGGAGACAGAGGCGAGTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCNN
|
pathogenic
| 340,691 |
Does the variant on chromosome X at location 153868136 affecting gene L1CAM (L1 cell adhesion molecule) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
GTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTG
|
GTGGAACATTTGAGGTCTGGAGTTCGAGACCAACCTGATCAACATGGTGCAACCGCATCTCTACTAAATACGAAAATTAGTTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCGCTCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAAAAGGAGAAACCAGAAAAAAAACTTGACCGGGTACTTCAAGTTACCATCTGGTCATGTTCCAGATTCAAGGAAATGAAAGAAGCAGCATTGGCTGATATAACTGGAATACCGCTGCCAATTATAGAAATGTGAAGTGTGGGGAATTTCATAACGTCGCTCTGGTTATGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGNNNN
|
benign
| 340,716 |
Is the genetic mutation found on chromosome X at position 153868578, within the gene L1CAM (L1 cell adhesion molecule), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['L1CAM-related_disorder', 'Spastic_paraplegia']
|
TGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGT
|
TGTAAGAGAATATCCTCATCCTTAGGAAAGGCGCACACCAATGCTGAGAGGTGTGGACATGGGCTGGGGTGGAAGCAGGCGAGCTCAACCGTGGGCGAGGGGCCCTGCCGGATACTCACAGTCCTCTCCAGAGTAGCCGATAGTGACCTGGGGCTCTGGTCCCTTGCCCTGGCTGTTGACGGCCTGGACTTTGATCTCATAGGGCACGAAGGTGGACGTGTTGGACACCACCAGGAAGGGGTCGCTGACAATCTGCTCCTGCCAGGGCCCTCGTGTCCCCTGAGGGCGCCACTGCACGCGGTACTGAACCTGGGGGGCGTTCCAGTCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAGCATTCTTTGGCCCGCCCCCCAGCACAAACCAGCATCCCCAGACATCAGCCCCTTCCTTTGCATAGCCAAGGGGGAGCAACAGACACCCAGGTCATGGCCTCATGTCCCCCAGGCAGCTCAGCCCAGGGACTCTCACCTTCCACGTGATGACCATATTGGTGGTCTCATTTCCTTCCCCCTTCACATCCACAGGGTTCTTCTCTGGGGCTGGAAAGGAAAGTATTAACACATCAATGCTGCAGCCTCTTTTGGAGAGCCACGAGGACCGAGGGCCAAGGAACAAATGGCTCATTCTGGCACCAAGGGAGTCCAGCCCCCTCGCGCTCCCCCTGGAAATTTGGAAGCAGAGGAACTTGGGCATGGCACCTCTCTAAGCCCTCCCTTCACAGCCCGGAGCCCCTTCCAGGTGGCATGGGAGTGGGTGCCACCCTGACTCACCTGCCTCAGGTGTGACCACAGTCTCAGAGACCGGGCTGGGCTCCCCGGGGCCATATTTGTTTATGGCAGTAACCCTAAAGGTGTAGTGGACATAGGGCGACAGCTTGAGGGTGGTAGAGGTCTGGTTCCCTGGAACCTTGCCCAGACTGTACCATTTTTCAGGCGCCATTTCCTTGTCCTCAAATTCAATGTCATATTCTGCCAAGAAATGAACCGACAATGGAGTGATCAGCATGTGGCTTTGGGGGAAGGGCTGTGGAGGGGTTGGGTACAGTCTGGGTCCCTGATTACCCAGGCCAACTGGCATCTCCAGATTCCCATGAGGAACCGTGAGTCCCCCCAAACCGTGTCCCCCCAGGAAGGCTCCAGGAGGAGGGAGGACCCCAGGAGGGGCCAGGGCTGGCAGAAGTGACGGTGGGGTGGCACTGAGCTCAAGCCTCTTACTCTCAATGGGGGCATTGTGGTCTTCTGCAGGACTCCAGGACACGCGCACCTGGCTCTGCGTCAGCAGGTGCAGGTCGGACAGCACCAGCCGTGGCACCGGCCCAGGGCTCCCTGAGGGTGGGGAGGGTCGGTGCTTGAAAGGGCCCAGGGATGTGAGCCCCGGCCTTCTGGAGTGGAGGCTTCCACCCTAGGACTTACCCACCACCAAGAGCTGTGCCCTACTCTCCACCACATCCAGTTCGGTACTGGCCACGCAGCTGTAGTTGCCCTGGTCGCTGTAGTCCAGGCTGTGGATGACCAGGCGCCCATCCTCTATGAAGTACCTGCGGAGGAGCCGTGTCTGTCTTTCCTGCCATCTGGGCTCTTCTCCCCTCCCATCCCTCCCTCCTGTCTCCTTCCCCCGCTCCTGTCAGAGCCTTCCCCATCAAAGCAAGGACGAGGCCAAGAGGTCTGGACTTCCAGCTTTTCCCACTCTGCCCCCTTTCACCGTCACTGTCCTCACTTGTCACTGTCCCCAAGCTCCTGGAGGTCTCGACCGTCCCCACGCCAGGTGATGCTGGGCTGCAAGGAGGGGTCAAAGGAGGCCTGGCACGTGAAGGTCACCCTGGAACCTTTCTTCTCGATTGTGCTGCGGGGCCCCTGAGTGATCTGAGTTGCATCTGAGGGTAATGCGTGCGTGGGGAAGTCACTCTGTTGTCCTCCAGAGGCCCAGACCCTCCCTCCCAGAGGCACTGCCAGCCATGTGGCAAGGGTTGCCTGACCTTTAACCTTCAGGTTAGCATGATGGTAACATTGTTTTGGTCATTGGCAGCCAGGCAGAAGTAGCGTCCGGTGTCATTGGCCTGGAGGTCTCGAATGCCCAGGGTCCCATTGGCATAGGGGAAGAAGCGTTCGTCCTGAAGCACTGTTGTCCCATCCTCGTCCAGCCTGGAGGGAGCAGGGCGGGCCTGGCTCTGACTGGCTGGCCTGGGCTCCCTGCCCTCCCTGGCTCCCTGGCCACTGGGACACGACACTCACCACTACCAGGACGAGACACTCACCACTGAACACTGGGCACAGGCGCTCCGAAGGCCTTGCACAGAAGGTAGGCAGTGCTGCCCTGGACAGCCATGTACGTCTGATTGTCCGCAGTCAGGATCTTGGCTGGCAGCTCTAGGGGAGGAACAGCCTCAGGAGACAGGGCAGGACTTGGGACCACAGCTGGGCCAGGAGCCAGGGACCCTCTGCACGGCTTCCTCGGGCCCCCAAGAGCCCTGCAAATCTTGCTTCCCTGCTCCCAGCTGAGGCCCCCGCCAGGCTGTGTCTCTCTCTGCCTTCAGACACTGCCCTCTGCCTCAGATGCGCCTCTGGTCACAGCCACCCAACTTTTACGTTATTCCAGGCCTAACTGACAGTCACCTCTCCCCAGAAGCCTTCCTGGCCTAGTCCCCAGCCTTCCCTGAAGTTCCAGGAGAGGTGCCACCTGGGCTGGCCTTGGTCACATCCTGTGGCACAGCGGTCCGCTCAGTCACAGTGACAAGACCTTTCCCCTCTTACATCTCCCTCGGCTATCGTGAGGCTGAGTGAGATGGGGCGAAGGGTGTCAGCAAGGAGAAAGGTCGGCGCCAGCCTGGTAGGCCGAGGACACATCAGCTGCCAGCTGAGCCACTCTGGTGGCCTGGCCCAGTGGGCTGCAGGGACAGACTGGGAGTTAGGAGGTAAGGAAGGGAGGGCACTCACGGACAACGTAGATGTAGGCATTGGCCAGCAAGAGCCCGTGCCGGTTGCGGGCCTCACATTGGGTCACCATTGTGTCACTGGGCTGCACGTTGCTCAGGATCAGGGCGCCACGCTGAATCCGGTACTTCTGGTCTTTGGCCAGCTCTGTGCATGCAGCAGGTGGGCCCATGGGCCACAGCCCGGCATTGAGCTGCGTTGAGGCCCTTCCTCACCCTCCTCTTCCTCTCCCCCACAGCCCCCAGGGCTCGCCACACTCCCCACTCCTGCCTGAGGCCCTGCTCACCCTCCACAGGGATCCCGTTGATTCTCCAGGTGACCTCTGGTTGGGGCCTGCCCTGGACTTGGCAGTCCAGGCGGGCAGTCTCTCCTGGCCCATATAGATGGCTCTGGGGCTTGTGCAGCCAGTACGGGGCAGCTGGGAGGAAGGGGAGAGCCGCCCTGAGCCCGCAGCCAGCAGCTGGCTCTTGACCCGGCGCAGACCCTCCCCTCCCCCATGACAGTGGGCATCACAGGCCACTGTCCCAGGAGGTCCATACCCTCCACGGTGACATAGTACGCATGCCGGGCACTGCCCAGTGAGTTCTCGGCCAGGCAGCGGTACTCGCCATCATCCTCCTCGCCCACTTTCAGCAGCTGCAGGGTCTTGTTGTGGTTCTGGTAGGTGACACGGTCGGCTGGCATGGGGCCACTGGGGCGCAGCCATTTGATGGTGGGCGTGGGACTGCCCGGGAGGCAAAGGGAAGAGAGCAGAAGGGAGAAAGGACAAGGCCAATCACCCCAGCCCCCTATACCCCGCGGTGGTCTGAGCTCCCTGCTAGGGCTCCGCCACCCTGCCCTGCCCTGCCCTGCCCTGGGTTCCCAGACTCACAAGCCCTCGGCGATGCACTCCAGGACCAATGGCTGCCCCTGCAAGGCCACCAGGTGGCTGCTGGAGTTGGTGGGGAAGAGCAGGCGCGGCTTCCTGTCAATCATGCTGTTGGCTGCCAGGAGAAAGTGGGTGGGTGGGCTGCCCACTCTTCCCTCCACCCCAGAATTGCAAGGCTGAGGGACTCGACACTCCAGCCAGCCCCCGGGGCCTCTGTGTCTTCCTCCATTAAGGAGAGTGTN
|
pathogenic
| 340,722 |
Variant chromosome X, position 153905886, gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked', 'Inborn_genetic_diseases']
|
CTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTA
|
CTCGGCTGAGCCAAGCCAGGCCTGGGTGCGGGGGGAGTGGAAAGAGAACTACTGGGATGGGGGCTGGAGGGGGTGTGGGGACAGGGGAAGGAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTANNN
|
pathogenic
| 340,799 |
Does the chromosome X mutation at position 153905976 within gene AVPR2 (arginine vasopressin receptor 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Nephrogenic_diabetes_insipidus']
|
GAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAG
|
GAGAGAGGTGTTGGGGGAGGGAGGAGGAGGGCTCAGGTACAGGGAAGGTGCGTCCATACTCATGGTATGTTCAAGAACATGAGCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGN
|
pathogenic
| 340,806 |
The mutation impacting AVPR2 (arginine vasopressin receptor 2) on chromosome X at position 153906058: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Nephrogenic_diabetes_insipidus']
|
GCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCA
|
GCGAGCGTCTCTGTGTTGTGTGTTTGTGGCTGTGTGGCTGTATCATGTGAGGTTGTGTGTGGTGGGAGGGAGCCCGTGAGCACACGGAGGTCCCCAGCCCCTCTTCCTAGGACAGGTAGTTGCAGGTGGGGCAGGAGGAAGAGGGTGGGGGTGTCCCTGGATCTCACAGGGGTTCGTGAAGCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCAN
|
pathogenic
| 340,811 |
Evaluate the clinical significance of the mutation at chromosome X, position 153906238 in gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked']
|
GCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTC
|
GCCTGGCTTGGCCCCTGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCN
|
pathogenic
| 340,817 |
Clinical significance of chromosome X, position 153906253, gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked', 'Nephrogenic_diabetes_insipidus', 'Nephrogenic_syndrome_of_inappropriate_antidiuresis']
|
TGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCT
|
TGCCCCACTCCTCCCTTTCCTGTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTNNNNNNN
|
pathogenic
| 340,819 |
Gene AVPR2 (arginine vasopressin receptor 2) variant at chromosome X, position 153906274—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Nephrogenic_diabetes_insipidus']
|
GTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGC
|
GTCCCTCGTCTCCGGCCAACTGGGCCCTAACTGGGGAGGAGGAGGGGCCTGCGTGGGCCTGGGAGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCN
|
pathogenic
| 340,821 |
The genetic variant at chromosome X, position 153906337, affecting gene AVPR2 (arginine vasopressin receptor 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Diabetes_insipidus,_nephrogenic,_X-linked']
|
AGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGC
|
AGGGGCCCAGCGAAAGTGTTTTCACCCCTTCCTTGCCTGGGCCCAGCGAGGAGCAGGAGGACCCCAACTTGGGAAGGGGGCGTGAAGCTCCCATGAAAAAGCAGCGCAGTCCTGGGCCAGACCCACCGCTCTCTGGCCTCAGTTTCCCCACTTATAAAATGGGAATGCTGAACTAAGTGACCTCCCAGAGCACTGCCAACCCAGACAATCCAACCAGGGGGGCGTGGTAGGGTGAGGGTGGGCGTGGAGGCTATGGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCNNN
|
pathogenic
| 340,823 |
Evaluate if the mutation on chromosome X at position 153906591 in AVPR2 (arginine vasopressin receptor 2) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic
|
GGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCTTTCAGCAGCAGCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCTTCCACGTTCAGCCCGACAGTGTTCACAGGGCCCATGGTACAGAGCACGGAGCAGGGTCCCCCAGGTTGTGCGCTTGCCAGGGCCACATCTTGAGCCTTCGCTCTGCTCCTTCGAGAGCCGCTGCTGCCCCACCCCAATCCCCAACCAGCCACCCCCTCCTGCCTCCCTGCCATC
|
GGCAGTGGGAGGAGGGAGTCCTGGGCCGGGACCAGGGAGGCCCTGGGGAAAGGAAGGGAAACAGGAGGCCAGGGGAGGCCTGGGGGAAAGGGGGAGGGGGAGGAAGTCCCCTCCTGGCCAGGTCACTCCCAGAGGCTGGGCTGGGCCAGGGCAGGGCAGCCGATGGAGAGCAGATCTGAGCACCCAGCCACCTTCACGCCACCGCCCAGCTGCCCAGGAGCCCAGCCAGGTAAGGGGCTGCGCCTGCCTGCCCCCCTGCCCAGTCCCCAGCCCTCGGATGGTGGCCTCTCTCGGCCTCGGTTGGGGCAGGGGAGTTCTGCGTGTCTGTCTGGGGTGCCCACTCCCAAACCCGGGACTCATGGGCTGCCTGGGGGATCCTGGGTTCTGTGCATCCGTCTGTCTGACCATCCCTCTCAATCTTCCCTGCCCAGGACTGGCCATACTGCCACCGACACGTGCACACACGCCAACAGGCATCTGCCATGCTGGCATCTCTATAAGGGCTCCAGTCCAGAGACCCTGGGCCATTGAACTTGCTCCTCAGGCAGAGGCTGAGTCCGCACATCACCTCCAGGCCCTCAGAACACCTGCCCCAGCCCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTGCCCCTCCATGAGTCCGGTGGGCAGAGTGGGTTTGACGATTCAGGGAAGCCCCTCTTTCTAAAGACCTCCTTCACCCTCACCTCTGGGTGTGTCTCTCCAGGCTGCCAATGAGTGGGGAGGGGAGCACAGCCCCACTTCCCCGCCAGGGCTGGGGCTGGGGCTGGGGCTGGGGCTGCCCTTCCTTCTGGACTGCATGAGCCTGGGGTGTGTATCCCTCATAACATGGCTTTCCTGGAGTCCCCTCTGCTAGGAGCCAGGAAGTGGGTGTCCGGATGGGGGCACGGGAGGCAGGCCTGAGTCCCCCTGCACAGCACCCTCTCTAACCAGGCCCTCTTCCCGACTCCTTCCCAGCTGTGCCTGGGCATCCCTCTCTGCCCAGCCTGCCCAGCAACAGCAGCCAGGAGAGGCCACTGGACACCCGGGACCCGCTGCTAGCCCGGGCGGAGCTGGCGCTGCTCTCCATAGTCTTTGTGGCTGTGGCCCTGAGCAATGGCCTGGTGCTGGCGGCCCTAGCTCGGCGGGGCCGGCGGGGCCACTGGGCACCCATACACGTCTTCATTGGCCACTTGTGCCTGGCCGACCTGGCCGTGGCTCTGTTCCAAGTGCTGCCCCAGCTGGCCTGGAAGGCCACCGACCGCTTCCGTGGGCCAGATGCCCTGTGTCGGGCCGTGAAGTATCTGCAGATGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGCCGTCCCATGCTGGCGTACCGCCATGGAAGTGGGGCTCACTGGAACCGGCCGGTGCTAGTGGCTTGGGCCTTCTCGCTCCTTCTCAGCCTGCCCCAGCTCTTCATCTTCGCCCAGCGCAACGTGGAAGGTGGCAGCGGGGTCACTGACTGCTGGGCCTGCTTTGCGGAGCCCTGGGGCCGTCGCACCTATGTCACCTGGATTGCCCTGATGGTGTTCGTGGCACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCATGCCAGTCTGGTGCCAGGGCCATCAGAGAGGCCTGGGGGGCGCCGCAGGGGACGCCGGACAGGCAGCCCCGGTGAGGGAGCCCACGTGTCAGCAGCTGTGGCCAAGACTGTGAGGATGACGCTAGTGATTGTGGTCGTCTATGTGCTGTGCTGGGCACCCTTCTTCCTGGTGCAGCTGTGGGCCGCGTGGGACCCGGAGGCACCTCTGGAAGGTGGGTGTAGCCGTGGCTAGGGCTGACGGGGCCACTTGGGCTTGGCCGCATGCCCCTGTGCCCCACCAGCCATCCTGAACCCAACCTAGATCCTCCACCTCCACAGGGGCGCCCTTTGTGCTACTCATGTTGCTGGCCAGCCTCAACAGCTGCACCAACCCCTGGATCTATGCATCGTGTCCTCAGAGCTGCGAAGCTTGCTCTGCTGTGCCCGGGGACGCACCCCACCCAGCCTGGGTCCCCAAGATGAGTCCTGCACCACCGCCAGCTCCTCCCTGGCCAAGGACACTTCATCGTGAGGAGCTGTTGGGTGTCTTGCCTCTAGAGGCTTTGAGAAGCTCAGCTGCCTTCCTGGGGCTGGTCCTGGGAGCCACTGGGAGGGGGACCCGTGGAGAATTGGCCAGAGCCTGTGGCCCCGAGGCTGGGACACTGTGTGGCCCTGGACAAGCCACAGCCCCTGCCTGGGTCTCCACATCCCCAGCTGTATGAGGAGAGCTTCAGGCCCCAGGACTGTGGGGGCCCCTCAGGTCAGCTCACTGAGCTGGGTGTAGGAGGGGCTGCAGCAGAGGCCTGAGGAGTGGCAGGAAAGAGGGAGCAGGTGCCCCCAGGTGAGACAGCGGTCCCAGGGGCCTGAAAAGGAAGGACCAGGCTGGGGCCAGGGGACCTTCCTGTCTCCGCCTTTCTAATCCCTCCCTCCTCATTCTCTCCCTAATAAAAATTGGAGCTCATTTTCCACATGGCAAGGGGTCTCCTTGGATCCGGGTAACGGTGGGTGTGGAGGCAGCACAGAGACATACACAGACTCCCCACACACACCCACAGTCACGTGCACAGCTCTGGAATCCATGGCGCAGGCAGCCAAGTCTTCAAAGCTGCAGGACCCCTGGGGAAGCTGTTCTCACCTCCAGCACCCACCTGCCCACCCGAGACAGAGAGCTGGCTCCCATCGGGGAATCAACACGAGGTCTTTATGAATCGCCACCCAGCCCTGCCAGGCATCTGAGCAAGGGTACCCGCCACCCAGCAGCCACTGATCAGCCTTCCACAAAGCTGCAGAAGAGGGCTTTCCCCAGCATCCTTCCTCAGCTGCCTCCAAAAGGGGCCTGGGCCAGGGCTGAGGGGCAGGCAGGATGTGGAGCGGGCATCCCTGTGTGCACGGCCCCATCCCACCTCTCTGCACAGGGTGAAGTGCAGGCACCCTGCACTTGCTGGACAGGGCTGGAGAGAAGCAAGGGGGCTGGGGAGAGTGGCCGGTCCAGCGGGTAGCCGCCGGGGGCACGCATCTCCAGCAGCGGCACCTCAGTGTGGCTTGGGGGTCGTGTCTAGGCCCTGGGGGTGGGAAGCTGAGGGTGAGGCTGGGGCCCCAGGGCCCCGGGAGAAGCCTTTGTTCCTGCCCAGGCGGCTGCTGGGCGGGGCCTTTGGGCTTCGGGGCCCAGGACTGGGAGAGGTGGTAGATGCTGGCCCAAGGCCCTGGCGGACAGAGGTCTTTCCCAAGAGCTCCTTAAACACAGAGTCCATGTTCTGTGCCACAGCCTAGCGGAGGGGAAAGAAAGGGAGAGTGACCAGTGAGTTCCCCCGACTGACCCTGCCCAAGACCCACCTGAGTTCCTCCCACTCCCAAAGCAAGCCCTCAGCCAACATCCCCAGTCCCTCAGCCTCCAGGTCACTCTCCCCCACTTTGCACCTGGCATCCCTCCTGTCCCTGTTGGTGTCTCTGTCACAGTCTCCTCTGAGGACAGCAATTCCTTGGTTTAGCCCGGAAGTGGGGACCCCCCTCTTCTCGCCCCCACTCTTTCCCTGGCAGAGATCACAGCCCCCTGCCCATGGCCTCAGGGACCGCCAGCGTGCGGGGACTCCCCAGTCAATGTCCTCCCATGGCGTCTCCTGGCTGCCCTGTCCCTGGCTCCCGCTCCTGCTCCTCCGTGTCTACCGGACCCTCCCTGGGCTCCCTGGGCCTGGGGGCTTGGCCACACCTGGGACACCCGCATGTTCTTGGGCTCTCTCCTCCTTGGGCTTAGCAACTGTCCCGCGGGCTTCCACGTTCAGCCCGACAGTGTTCACAGGGCCCATGGTACAGAGCACGGAGCAGGGTCCCCCAGGTTGTGCGCTTGCCAGGGCCACATCTTGAGCCTTCGCTCTGCTCCTTCGAGAGCCGCTGCTGCCCCACCCCAATCCCCAACCAGCCACCCCCTCCTGCCTCCCTGCCATCNNNNNNNNNNNNN
|
pathogenic
| 340,828 |
Gene mutation in HCFC1 (host cell factor C1) at chromosome X, position 153951470—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
TGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGGGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGGGCTCCTCTTCCCAGGCTGTCTCCGCGGCCTATTGCTCCCCCGAGCGGCCCGGCTTCCCCAGGGTTGCACCGGCACTCACCCATGACGGCCTGCTGCGCGGCCTGGAGCACCGCCTGGATGGCCAGGGCCTGGGCTTCCTCCGTGGCTGCGGCCTGGGCAGCTGCTTCTGCAGCAGCCGTCACTGCCAGCTCCTCGGGGGTGAGCCCCGTTACCATGAGGGTGGTGGTGCCAGCTTGGGCCTCGGCCATTAGCTCTTGGGGAAGTGATAACTGGTCTACTTCGGACTGTGTGGGTGGGGGTGGCTGGACCACCACAGTGGCCACCACCGCAGAGCCGGCAGACTCCTGGCCCGAAGATGGCTCCCCTGTGCTGCTCAGATCCACGGCGGCCGGGAGCTCAGGGGTCTGGGAGGCTGACAGGACCTCGGCGGACTCCCCCATCAGGGCTGTGGAAGCCGACTGCAGAAGCTGCCGTGGCGGCAGCTGCTGGCGAGGACCTGGCGACACCTGGAGTTCCTCTGGGGGCTGCAGGATGTCAACAGCAGAGAAGGGCATGTCAGAAGTTTCTGTGTTGGCTATGGTCACTGTTATTTTGGCCGGGATGGGGACTTCAGTAGTCAGAGCCCTTGGGGCAGTCTCAGTCATTGATGAGATCTTCTAGAAAGGGAGAGAAGCCCCTGTCAGAGGGGAGGAGAGGGGCCAGAGCCAGGCAGCAGGGCTGAGAAGCAAGCCAGCCCTCACCTTTCCTTGTGGGCCTAAGTTTTCATTCTTGATGGGCCAGCTCCAGCCCATGTTAAATAGGGAGGGGACAGTGGTTCTCTGACCAGCATGAGGAGAAAGGCCCTTGAGACCCCCGGTCAGGTTTAACCCGTCCTCAGTCACCCTGGCCTGGACAAATGGGCACTCAGACCCCCGCCATGTCTTATACAGGCTGCGGTGAAGTGACACGCGATGAGAACCAGTCCCAGAAATAAAAGCGCCCCAGAGATGCGGGGGACGGTGAGGCTCCTGCCTCCTGCCGCAGCAGGCACCGAGGCTGCCCTTTTATGGTCCGGAAAAGGGACCAGGAGCGGCCCCATGCCTG
|
TGGGCCCTGCACCACTGGAGGCCCTGCTGGTGCAGGGCCGGTTAGGGGCCCCCAGTCATTTGACAAGAGGCTGAACCCAGCTATTTCCACCCCTAGTCTCAGAAGGTTCCCGAGAGGGGCTTCCTGCTTACATTTCTGGAGAGGACATGGGCCGCTTGTTGGCTGGCTTGGTGCCAGAGCTGTCTTTACTGGTTTCTGGAAGGAACGGGAGAGATGCGTGAGCAGCATTGTGACAGAACGAGAGCAAGGAACACATGCGCCCTGCCCGCCTGCAGAGTCTCTTGGTGCCACATGGCATGACCCGCAGCTGGCAAGGGTGGGGCGCCTGCCCTATGGGTGGTCACCTTTTACGCCACTCCTTGGGACCAGAACACGACACCACTCACTCCCCTCTGGACGTAGGTTAGAAACCCACTCAGCTCAGCTCCCACCTCTCACTGCCCTCCCAGGTCCCAGAGCCCCAGGGGAGCTGGAGCAGGAGCATGACCTGACAGGAGGCAGGCTGGCCTCCATCCCTCACCTGCTGCACTCCAGGGACCTGGGACGTGCTGTTTTCGGGCCTGGAAACCTACACTTTCCCGCCAGCCCTCTCACTGCTTGTCCCCTCAAACATCCTGGGGTGGCGTCCCCTGCACCCCCAGGCCCGGAGCTGGGTCCCCTGCTCTACTTGATGGCCACCCCCGTGGGGGGCTGTGTGCGCGCCAAAGGAAGCAGGGAGACGCCGCACATGGGAAAAAATCTCAGATGGTGACAGTTCCTCCTGCTGCACCCGGCTTCCTGGGCCTTCCCTGTGCCTGAAGAGCTCCACGAAGGACACTCACCCTGCAGCCACCTCACTTGTGTGGCCGGGCCATAGCCCTTCTCATTGCGGGCGGCGATGCGGAAGATGATGGCGGGCTTGGTGGTGTAGTCGATGTGGGCGTTGGAAAGGCTGGAGGACTGCACCAGGCAGGAGGGGCTGGGCCCGCAGTACACCCGCATGAAGGCCAGCTGGGCCGGGGTGGAGCTCTTGAGCTCGCCCCCAGCCTGTGAGCTCTGGATGGCCAGGTACACGGAGTACTCGATAATCTTGCCGGAGGTCACAGAGGGTGGCTCCCAGGTGAGGTGAGCACCATCCGGACTCTAGAAGCCAGGGGGTCAGAAGGTCAACAGAACAGGCTAGAGGCTTCCAGAACTGACTAATCATGGTTCCCATAAGCCATTTTCTAACACAGTAGAGATATTCCATGTGGTAGTTCAAGGAGCTTCAAAGAGATCTTCCCCCAAGTGGAAGGACTAAGACAAACTGGGACTCAAAACCTAGCTCTCCTATGCCCCCCCCCGGCCACCTCATGTGCTGAGGCAGGCAGAAACCAACCAGGGACAGACGGCCACCCCACAGCAAGACTCACTTTGCTGATTTTAATGGCACAAGGGGCCCCTGGGAAACCAGGCAGGCACGTCTTAAAGGCTGAGATTTCGCTGAAGGGCCCCCGGCCACAGGCATTGATTCCGGCAACACGAAACTTATAGGCTGTGCCTGGCTGCAGCTCCTGCTTCTTCAGCTGGTTATAGTCAGGGACGGTGCCCAAATCATCCTAGGAAAAGAGGAGTGGCATGAACGCCACTGTGGAGAAGGCAGCTCTGGGCCACCCCAGGAACACTGCAGGTCCATGGTAACTATGGGCCAGAGGGAAAAGAGGTCAGCGGTGGCTGGCCCCTCACGGCAAGGAGGGACGTGGCGAGGCTGACTGTGGCCCGGTACTGGCGGGAAGGAACCAAAGCTCTCCTTTTCTACTGCTTCAGGGGGGATGGTCTCTGCCCACCTTCCTCAGGCTTCCTGGCTACTCAGCTTGGCCCAAAGATGGAGGAGTTTCCTGTAAGCCCCGCTCAGGGTGGTGGAGCCAAGACCCACCCACCTGAGGACATCAGCACCTGGGGACACTTACGTCTGATGGGACAGCATCATCTGGTGGCAGGAAATAGTGTGTCACCATTACATTGGTGCCCTTAATGACTCCCACATCAAACCACTGGTTTTCCTTCTTCATGGGGGCTTTGCTGGGTGGGGGCAGGTCTGGCTTCTGCAAGACAGAATCGGTGCGACGAGATCAGGCCCTCAGCACCTAGAGGCAGTGCTGCCCCCCAGGCCACGGACTCAGGAGCCCCAACACACCCGACTCACCACACCCAGGGACTCGATGCCATTGGCCACTTCGGTCAGGGTAGCTGCAGCCTGCAGCTTGGCTGGGCTGGCCACCACAACCGGCTGGGGGGCCACAAATGTGTTGGATGGAGCCAGGCCTAGGAAGAAAGAAGGTGTCAGCGGGAAAGACTCGGGAAACCTGGCTCCCAAGTGAGACCGAGCCTCCCGTCCTGCCCTCACCTCCCTGGGTGCCCCCACCACCCCAGCACCAATTCGCCCTCAGTCGCTTACTCTCAGTGGCCGTTGAGGGCAGCAGCGCCACAGTGCTGGGGACCGTGCCGGCCAGCTCATTGAGGCAATTGCTCTCAATGGCTGGGTCGTTGAGACTGTCGGCAGGGGCCAGGGCCTCAGTGGGGAGGTGGTGATGCTGCTGCTGGGCCTGGGCCTCCTGCAGCTGCTGCTGCTGCACCAGGGCAGCCAGCTCCTGCTGTGTCAGCACAATGGGTATGGTGGTGGCCTGGCCCTCCTGACCCTCGGCCGACAGGTGCCCCAGCTCCGCCTGAGTCACGGTTGCTGCTGCCTCGGAGGTGTCCATGGGCTCGCCGGTGCCTGCTCCAGGGTCGAGAGAAACACTACTTACTAGGAAGGCTGGCCAGAAGCGGGCAGCCCGGGCGGAGGCCCCCAAAGCCTGTCCTAGAGACCCCGTCCACCTCCTACCGTGCTCCACTGTAGGCTAAGCCCTGGCCGAGGGGCCCTGCCTGTTTCCCAGGCGCTAACCCCAGCCAGCCTGTTCTACACGGCAGTCTCTACTACTTGGCCTGCCTGGGGTCCCCTGTGCTCGTCCTCCCCATCACATCTGGCTCATGCCACCCTCGAGGGAAATGGGCTCCTCTTCCCAGGCTGTCTCCGCGGCCTATTGCTCCCCCGAGCGGCCCGGCTTCCCCAGGGTTGCACCGGCACTCACCCATGACGGCCTGCTGCGCGGCCTGGAGCACCGCCTGGATGGCCAGGGCCTGGGCTTCCTCCGTGGCTGCGGCCTGGGCAGCTGCTTCTGCAGCAGCCGTCACTGCCAGCTCCTCGGGGGTGAGCCCCGTTACCATGAGGGTGGTGGTGCCAGCTTGGGCCTCGGCCATTAGCTCTTGGGGAAGTGATAACTGGTCTACTTCGGACTGTGTGGGTGGGGGTGGCTGGACCACCACAGTGGCCACCACCGCAGAGCCGGCAGACTCCTGGCCCGAAGATGGCTCCCCTGTGCTGCTCAGATCCACGGCGGCCGGGAGCTCAGGGGTCTGGGAGGCTGACAGGACCTCGGCGGACTCCCCCATCAGGGCTGTGGAAGCCGACTGCAGAAGCTGCCGTGGCGGCAGCTGCTGGCGAGGACCTGGCGACACCTGGAGTTCCTCTGGGGGCTGCAGGATGTCAACAGCAGAGAAGGGCATGTCAGAAGTTTCTGTGTTGGCTATGGTCACTGTTATTTTGGCCGGGATGGGGACTTCAGTAGTCAGAGCCCTTGGGGCAGTCTCAGTCATTGATGAGATCTTCTAGAAAGGGAGAGAAGCCCCTGTCAGAGGGGAGGAGAGGGGCCAGAGCCAGGCAGCAGGGCTGAGAAGCAAGCCAGCCCTCACCTTTCCTTGTGGGCCTAAGTTTTCATTCTTGATGGGCCAGCTCCAGCCCATGTTAAATAGGGAGGGGACAGTGGTTCTCTGACCAGCATGAGGAGAAAGGCCCTTGAGACCCCCGGTCAGGTTTAACCCGTCCTCAGTCACCCTGGCCTGGACAAATGGGCACTCAGACCCCCGCCATGTCTTATACAGGCTGCGGTGAAGTGACACGCGATGAGAACCAGTCCCAGAAATAAAAGCGCCCCAGAGATGCGGGGGACGGTGAGGCTCCTGCCTCCTGCCGCAGCAGGCACCGAGGCTGCCCTTTTATGGTCCGGAAAAGGGACCAGGAGCGGCCCCATGCCTGNNN
|
benign
| 340,895 |
Variant at chromosome X, position 154030268, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGT
|
GTTTCTGGAAGCATAAGACTGCTGTCTCATTTGCTACTTTGATAAGGTACTTCTCAGTTGGACAGATTTAGATATAAGAGACATCTCTGTAAACACAGAAAAGGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGG
|
benign
| 341,054 |
Evaluate this variant at chromosome X, position 154030370, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGG
|
GGATATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGNNNN
|
pathogenic
| 341,062 |
Is the chromosome X, position 154030374 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Rett_syndrome']
|
ATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTC
|
ATACCAATATGATGAAGATATGCAGCTAGATAAGGACTTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCNNNN
|
pathogenic
| 341,063 |
Variant chromosome X, position 154030411, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Rett_syndrome', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
TTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGC
|
TTCCTGAACAGAGGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCNN
|
pathogenic
| 341,074 |
Variant chromosome X, position 154030423, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type']
|
GGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTC
|
GGTTAAAAAGATGGGATCCCACATGAAAACTGATCAATTAAAAACCCACAGCAAGCCCATGCCTCTAAGCCCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTT
|
pathogenic
| 341,075 |
Does the chromosome X mutation at position 154030493 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
CCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGT
|
CCCTACACCACAGCTATGGACCAGACAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTNNNNNNNNN
|
benign
| 341,085 |
Variant chromosome X, position 154030518, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTG
|
CAGACAGTGAAATGTGTGGTGTTCTGGCCCCCTGTCTGCATCGAGCAAAAGCAAAACATTGCCATTCAAGAAGAACTCCGAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGNN
|
pathogenic
| 341,096 |
Variant at chromosome X, position 154030597, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Encephalopathy,_neonatal_severeMental_retardation,_X-linked,_syndromic_13Rett_syndrome', 'Rett_syndrome']
|
GAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCA
|
GAGGGAAAAGGGGGAGCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCANNNNNNNNNNNNNNNNN
|
pathogenic
| 341,109 |
Mutation found at chromosome X position 154030612, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
GCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAG
|
GCAGAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 341,112 |
Chromosome X, position 154030615, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCC
|
GAGGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGCTCAGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCC
|
pathogenic
| 341,115 |
Determine if the mutation at chromosome X, position 154030617 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Angelman_syndrome', 'Atypical_Rett_syndrome', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCAT
|
GGAAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,116 |
Does the chromosome X mutation at position 154030619 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic
|
AAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCA
|
AAGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAN
|
pathogenic
| 341,117 |
Is the chromosome X, position 154030620 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome']
|
AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAT
|
AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,120 |
Does the variant on chromosome X at location 154030620 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Rett_syndrome']
|
AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAT
|
AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,121 |
Variant at chromosome position 154030620, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Delayed_gross_motor_development', 'Delayed_speech_and_language_development', 'Inborn_genetic_diseases', 'Loss_of_ambulation', 'MECP2-related_disorder', 'Rett_syndrome', 'Rett_syndrome,_zappella_variant', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Smith-Magenis_Syndrome-like', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome', 'likely other unspecified diseases']
|
AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCAT
|
AGGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,122 |
Regarding the variant at chromosome X and position 154030621, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Rett_syndrome']
|
GGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATA
|
GGGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,123 |
Evaluate if the mutation on chromosome X at position 154030622 in MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Rett_syndrome']
|
GGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATAC
|
GGCTGGGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,125 |
Clinical significance of chromosome X, position 154030627, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,129 |
Clinical classification of chromosome X, position 154030627, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Rett_syndrome']
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,130 |
Located at chromosome X position 154030627, the variant affecting gene MECP2 (methyl-CpG binding protein 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Angelman_syndrome', 'MECP2-related_disorder', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,131 |
Determine if the mutation at chromosome X, position 154030627 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCA
|
GGGACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,132 |
Does the variant on chromosome X at location 154030630 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Rett_syndrome']
|
ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGAT
|
ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGA
|
pathogenic
| 341,134 |
Evaluate if the mutation on chromosome X at position 154030630 in MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGAT
|
ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,135 |
The chromosome X, position 154030630 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Rett_syndrome,_zappella_variant', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGAT
|
ACCCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,136 |
A mutation at chromosome position 154030632 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCT
|
CCAGGTACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,139 |
Does the chromosome X mutation at position 154030637 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATG
|
TACTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,142 |
Assess the variant on chromosome X, position 154030639, impacting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,144 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 154030639, gene MECP2 (methyl-CpG binding protein 2). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome']
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,145 |
Variant chromosome X, position 154030639, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,146 |
Determine whether the variant at chromosome X, position 154030639, in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTC
|
CTGGTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,147 |
Is the chromosome X, position 154030642 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Rett_syndrome']
|
GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTT
|
GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTNNNNNNNN
|
pathogenic
| 341,149 |
Clinical classification of chromosome X, position 154030642, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Rett_syndrome']
|
GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTT
|
GTCCCAGCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGTGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,150 |
Is the chromosome X, position 154030648 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Rett_syndrome']
|
GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAG
|
GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,152 |
Considering the variant on chromosome X, location 154030648, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAG
|
GCTCGGGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGNNNNNNNNNNNNNNNNNN
|
benign
| 341,153 |
Is the chromosome X, position 154030653 variant in MECP2 (methyl-CpG binding protein 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAA
|
GGTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAANNNNNNNNNNNNNNNN
|
pathogenic
| 341,157 |
Variant on chromosome X, at position 154030654, affecting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAAC
|
GTCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACNNNNNN
|
benign
| 341,158 |
A genetic variant at chromosome X, position 154030655, affecting gene MECP2 (methyl-CpG binding protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACA
|
TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACANNNNNNNNNNN
|
pathogenic
| 341,159 |
The mutation in gene MECP2 (methyl-CpG binding protein 2) at chromosome X, position 154030655—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACA
|
TCTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACANNNNNNNNNNNNNNNNNN
|
benign
| 341,160 |
Is the variant located on chromosome X at position 154030656, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAG
|
CTTGGGAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,161 |
Does the variant on chromosome X at location 154030661 affecting gene MECP2 (methyl-CpG binding protein 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACT
|
GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTNNNNNN
|
benign
| 341,164 |
Determine if the mutation at chromosome X, position 154030661 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Rett_syndrome']
|
GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACT
|
GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTNNNNNNN
|
pathogenic
| 341,165 |
Variant at chromosome X, position 154030661, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACT
|
GAGTTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTNNNNNNNNNNNN
|
benign
| 341,166 |
The mutation impacting MECP2 (methyl-CpG binding protein 2) on chromosome X at position 154030664: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome']
|
TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG
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TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCG
|
pathogenic
| 341,168 |
Considering the variant on chromosome X, location 154030664, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG
|
TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGN
|
pathogenic
| 341,169 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154030664, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic?
|
benign
|
TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG
|
TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGNNN
|
benign
| 341,170 |
Regarding the variant found on chromosome X at position 154030664 in gene MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGG
|
TTCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,171 |
Chromosome X, position 154030665, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGG
|
TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTTAGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGG
|
pathogenic
| 341,173 |
Is the genetic mutation found on chromosome X at position 154030665, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGG
|
TCTGCATTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGNNNNNN
|
benign
| 341,174 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154030671, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic?
|
pathogenic; ['Developmental_disorder', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGC
|
TTGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAG
|
pathogenic
| 341,180 |
Variant at chromosome position 154030672, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome']
|
TGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCT
|
TGGTACCGCTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTNNNN
|
pathogenic
| 341,181 |
Is the genetic change at chromosome X, position 154030680, within gene MECP2 (methyl-CpG binding protein 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCA
|
CTACTGCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCANNNNNNNNNNNNNN
|
pathogenic
| 341,186 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome position 154030685 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Syndromic_X-linked_intellectual_disability_Lubs_type']
|
GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATAT
|
GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATNNNNN
|
pathogenic
| 341,188 |
Chromosome X, position 154030685, gene MECP2 (methyl-CpG binding protein 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Intellectual_disability', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATAT
|
GCCCTGCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATNNNNNNNN
|
pathogenic
| 341,189 |
For chromosome X, position 154030690, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTT
|
GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCT
|
pathogenic
| 341,192 |
Variant at chromosome X, position 154030690, gene MECP2 (methyl-CpG binding protein 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTT
|
GCTGCACTACGCTAGACTCTGGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTN
|
pathogenic
| 341,194 |
Mutation at chromosome X, position 154030710, within MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
GGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGT
|
GGACTTCTGAGTGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTTGGGGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGT
|
benign
| 341,206 |
A mutation at chromosome position 154030721 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
TGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCG
|
TGAGGTCAAGGTCGGCTGGCATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGNNNNNN
|
benign
| 341,208 |
The chromosome X, position 154030741 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'Seizure', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGT
|
ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTG
|
pathogenic
| 341,211 |
Determine whether the variant at chromosome X, position 154030741, in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGT
|
ATGGAGCCCCTGTTGGGCCACTCGATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTN
|
pathogenic
| 341,212 |
Considering the variant on chromosome X, location 154030765, involving gene MECP2 (methyl-CpG binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Neurodevelopmental_delay', 'Rett_syndrome']
|
ATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCAC
|
ATGACTGGCAGGCCACAGGAGGCCTCTGTGCTTTCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACNN
|
pathogenic
| 341,220 |
Clinical significance of chromosome X, position 154030798, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Rett_syndrome']
|
TCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGG
|
TCCTCAACTACCAAATCGGGCCCAGCTCCTCCAGTCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGN
|
pathogenic
| 341,227 |
Subsets and Splits
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