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
|
|---|---|---|---|---|---|
Is the genetic variant on chromosome X, position 154030832, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCA
|
TCCACTTCTCTAGAGTAGAAGGGTGAAAAGGCTCGTTGTTCAGGGTGGGAAATGCCTTTTGCTTTTTCTTACCAGGGAAGAGGGGGCTACCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCANN
|
pathogenic
| 341,230 |
Is the genetic mutation found on chromosome X at position 154030921, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['MECP2-related_disorder', 'Rett_syndrome']
|
CCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCT
|
CCTAGGAGAGCAAGACCTTGCTGCTCTCTTGCTCTTCACAGACAGGCCAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTN
|
pathogenic
| 341,252 |
Does the variant impacting MECP2 (methyl-CpG binding protein 2) on chromosome X, position 154030968, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGG
|
CAGGTCGGACTCAGCAGAGCCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGNNNN
|
pathogenic
| 341,269 |
Considering the genetic mutation at chromosome X, position 154030987, impacting MECP2 (methyl-CpG binding protein 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTA
|
CCCAAGGCCTCCTCAGGGCTCAAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTAN
|
pathogenic
| 341,274 |
For chromosome X, position 154031008, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Rett_syndrome']
|
AAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACA
|
AAAACAGGGTGGGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACAN
|
pathogenic
| 341,280 |
Variant in gene MECP2 (methyl-CpG binding protein 2), located at chromosome X position 154031019: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'MECP2-related_disorder', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
GGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAG
|
GGGCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGN
|
pathogenic
| 341,285 |
Is the genetic variant on chromosome X, position 154031021, gene MECP2 (methyl-CpG binding protein 2), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'Syndromic_X-linked_intellectual_disability_Lubs_type', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome', 'likely other unspecified diseases']
|
GCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCC
|
GCTGGTACTGGCAGCAGGAGGACAAAGGGCAGGCAGAGTTCTGGGGACTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCN
|
pathogenic
| 341,287 |
Variant chromosome X, position 154031068, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease(s)?
|
pathogenic; ['Rett_syndrome']
|
CTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCA
|
CTGGAGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCANNNN
|
pathogenic
| 341,293 |
Determine if the mutation at chromosome X, position 154031072 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Rett_syndrome']
|
AGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAA
|
AGCCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAN
|
pathogenic
| 341,294 |
Is the chromosome X, position 154031074 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']
|
CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAAT
|
CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAA
|
pathogenic
| 341,295 |
Is chromosome X, position 154031074, gene MECP2 (methyl-CpG binding protein 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Rett_syndrome']
|
CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAAT
|
CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAA
|
pathogenic
| 341,296 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome X, position 154031074—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['MECP2-related_disorder', 'Rett_syndrome', 'Seizure', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAAT
|
CCGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATN
|
pathogenic
| 341,297 |
A genetic variant at chromosome X, position 154031075, affecting gene MECP2 (methyl-CpG binding protein 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATG
|
CGACAAGTGTGGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCA
|
pathogenic
| 341,299 |
For chromosome X, position 154031085, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Rett_syndrome']
|
GGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCAT
|
GGTTGGGCACCGCGGCTGCCTGGAAGAGAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGCACGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATNNNNN
|
pathogenic
| 341,305 |
A mutation at chromosome position 154031112 on chromosome X in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Inborn_genetic_diseases', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGAC
|
GAAGGGATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACNNNNNNNN
|
pathogenic
| 341,312 |
Classify the chromosome X variant at position 154031117 affecting gene MECP2 (methyl-CpG binding protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAG
|
GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACA
|
pathogenic
| 341,314 |
Does the chromosome X mutation at position 154031117 within gene MECP2 (methyl-CpG binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'likely other unspecified diseases']
|
GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAG
|
GATGAACTAGGAAGGAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGN
|
pathogenic
| 341,315 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154031131, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic?
|
pathogenic; ['Autism,_susceptibility_to,_X-linked_3', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAG
|
GAGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGN
|
pathogenic
| 341,318 |
Benign or pathogenic: chromosome X, position 154031132, gene MECP2 (methyl-CpG binding protein 2) variant? Disease(s) if pathogenic?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGG
|
AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAG
|
pathogenic
| 341,319 |
Variant at chromosome X, position 154031132, 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']
|
AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGG
|
AGGAGGATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGN
|
pathogenic
| 341,320 |
Regarding the variant found on chromosome X at position 154031137 in gene MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCC
|
GATGGAGGAAGGGAAAGAAGTGAAAGGATGAAATGAACAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCN
|
pathogenic
| 341,323 |
Does the variant impacting MECP2 (methyl-CpG binding protein 2) on chromosome X, position 154031174, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCA
|
CAAAAGGCAGAAATGGAAGGGGAGAAGAGAAACCAATCAGGAAGTCCTTATAAAATTGCAGCAAACACTTAGAGTTTCGGAGCTTCGTGGGAACCCTATGTGCTGAGCCCACTTTAAAACAAGCGCAGGTATATATACAAATCCAGGTAGTTCTCAACACTGTCACATCTGGTGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCANNNNNNNNNNNNN
|
pathogenic
| 341,335 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154031346, gene MECP2 (methyl-CpG binding protein 2): what disease(s) if pathogenic?
|
pathogenic; ['Rett_syndrome']
|
TGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGG
|
TGGCTTGAGGGACTAAATGTCACCAATTCAAGCCAGTTTGCTCTCAGAGCATCTGTTTGTTTTGAAGTGGGAACATGAAGACTCAATAGTGCAAATAATTCTAAGCTGTCCCTAAAGGAGAATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGNN
|
pathogenic
| 341,373 |
Evaluate this variant at chromosome X, position 154031466, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
AATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCC
|
AATTGGAAAGTAACTGGAAGAACATTTTCTTCTCCTCCCCCTTTGCCCCCTCCCCTGTCCACTAAGTCACAGACTGCTCTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAGGACGTCCCTTGAGAATGGACCATGCCACCTCACCCTGGGCCATCCTCTCCTGTGGTTCAGGCCAGTCTACACCCAGTAGTTCAAGGGACTCCCCCCTCCTAGCCATGCCAGAGCTGGAGCAGACAGGTGCCACTTTCCTGTCCTGTGAAGCGTCCTTGCCAGTTTTGGATTGGGGCTGGTGTGGGGCCAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCN
|
benign
| 341,413 |
The mutation in gene MECP2 (methyl-CpG binding protein 2) at chromosome X, position 154032197—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTG
|
GGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGNNNN
|
benign
| 341,423 |
Variant on chromosome X, at position 154032288, affecting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
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']
|
GAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTA
|
GAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTT
|
pathogenic
| 341,439 |
Variant in gene MECP2 (methyl-CpG binding protein 2), located at chromosome X position 154032308: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Rett_syndrome']
|
TTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCG
|
TTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGN
|
pathogenic
| 341,442 |
Is the genetic mutation found on chromosome X at position 154032382, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCAC
|
GTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACN
|
pathogenic
| 341,451 |
The chromosome X, position 154032393 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCA
|
TTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCANN
|
pathogenic
| 341,453 |
The genetic variant at chromosome X, position 154032470, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
GGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC
|
GGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCNNNNNNN
|
pathogenic
| 341,461 |
Gene MECP2 (methyl-CpG binding protein 2) variant at chromosome position 154032472 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Angelman_syndrome', 'Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
CCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC
|
CCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACNNNN
|
pathogenic
| 341,462 |
Benign or pathogenic: chromosome X, position 154032480, gene MECP2 (methyl-CpG binding protein 2) variant? Disease(s) if pathogenic?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
TGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCA
|
TGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCANNNN
|
pathogenic
| 341,463 |
Determine if the mutation at chromosome X, position 154032507 in gene MECP2 (methyl-CpG binding protein 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Rett_syndrome', 'X-linked_intellectual_disability-psychosis-macroorchidism_syndrome']
|
CTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGA
|
CTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAN
|
pathogenic
| 341,464 |
Evaluate this variant at chromosome X, position 154032527, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Rett_syndrome']
|
TACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGGG
|
TACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCTCTCCCAGTTACCGTGAAGTCAAAATCATTAGGGTCCAGGGATGTGTCGCCTACCTTTTCGAAGTACGCAATCAACTCCACTTTAGAGCGAAAGGCTTTTCCCTGGGGACTGTGGGGACAAACAGAAAGACACAAGGAACAATTAGAGGCTCTCCATAGCAATGTCAGAGATAGGGCAGAGCGGATGGTGGTGACAACGCTCTGACAAACGTTACTATTGAACGAGAGTCACACTGCCTGGCTGCCCCTGAGGACCTGTCACCAAAGCCACTCACTCGTCTGCCTGCCGCTGACCCCCCCAGGCCTCTCCAAAGTTCAGCAACCAAAGAGTCAGGCCTGGTACAGAAGGGTTGTCAGGCTGAGGCCCATTCTGCTGGTTGGTGCCTGGGCCTGAGTCACCATCTAGAACATTCCCAAGTTTGAACTCAGGTACGGTGCTCAGTCTCTCCAGGAATCAGTTTCAACAAGATAATCCTTTGCTCACCCTTCTCATGGAATTAAATGAGGCTGTCTGCAAATGTCATTTGAAAACTGCTAACCTTTTTGGGATCATTTAAAAGGCAGAACTGAAACATGCTTCTTCACCCCTCTGAACCCCTAGCTCTGCAAGTTCCTCTGCTTCCGCAGCTATTCCATCCCCAGATAAAGACTTGAGGTGTGGAGAGGATAGAGGGCCTGCTACCTTGAGAACTTCCCACTCAGGGCAGCGACCTCTGTACACGGTCATTTCAAGCACACCTGGTCTCAGTGTTCATTGTTTATGTTCCCCCCGACCCCACCCTGGGCACATACATTTTCCTGCTCCATGAGGGATCCTTGTCCCTGCCCTCCCTGCCCTGTAGAGATAGGAGTTGCTCTTACTTACTTGATCAAATACACATCATACTTCCCAGCAGAGCGGCCAGATTTCCTTTGCTTAAGCTTCCGTGTCCAGCCTTCAGGCAGGGTGGGGTCATCATACATGGGTCCCCGGTCACGGATGATGGAGCGCCGCTGTTTGGGGGAGGCAGAAGCTTCCGGCACAGCCGGGGCGGAGCCTGACCCTTCTGATGTCTCTGCTTTGCCTGCCTCTGCGGGCTCAGCAGAGTGGTGGGCTGATGGCTGCACGGGCTCATGCTTGCCCTCTTTCTCTTCTTTCTTATCTTTCTTCACCTTTTTAAACTTGAGGGGTTTGTCCTTGAGGCCCTTGGAGGTCCTGGTCTTCTGACTTTTCTTCCCTGAAGTGTTAAACAAGTATGTAAGTATCACAGAGAACATGCCAGTCTGCAGAACAAGTGAGCAGAGGCAGGCTTGGACCCCCACCACATGCAAGGCCCCAGGCCATCATACACTCAGATCTTGATGTCCTTCCCCAGGACAACAGAGACTCGGGCCAAGCTGGGACCCAAATATTTCTTTAGGAATTTGGGCTGTGGGTGGTGCTGGCCGGTGTGCCTGACCTGCACTGTGGCCACCCACAAGTCTCCTAGCACTGCAGGAGAATCAGAGCCCTTTCCTCTGAGCGGAAACACTGCGGCTCCTGAGCATACCACCCCAGCATGAGTCGCACTTCAAGGGACTCTGGGCTCGATGGCTGACAAGAGGCCGTCGACTGCTGGAAAGGGAGCCAAATGGGGGAGGGGTCTCCTTTGTGAAGGCCGGGCCTTGGGTGTGTTTTTGGTTTTCTAGAATGAGGCTCAATGAGGCACACAGTACAGTGTCATGGAAAGCACACACAGGTTTGGAGCCAGCCAACCTGCACTGAAATCCTTTGCCGCTTTCCAAACATGAACCCAGCAAATGACCTCAGCATTCTGTGCTTCAGTTTCCTTATCTTGACAACAGGTAACCCCATCTAGGCATCCTTACTGTGAGCATCACAGGAGAAAAGGCACAATGGCACTATATAAATATCAGCTAACTCAGGCCACAGGAAACTACCGCCTAGGGTCCTGGGGGTGATAAGACAAGTGGTCCCAGGTGGCGTGAGCCTCTAACACATGTTCCCTGATGAGGAATGGCCTCGGCCACAGCAGATGCGGAGGGAAGAGCAAGGAAAAAGGTGTGGTCCAGGCAGAGCCATACATCCCCTTCCTGCCGGTGGAGAAGAGCACCCTACCTATTCTAGTGTGGGAGGCTTCCCCGTTCTTTTCTGGTGACCGAAGCAGCTCCTTCTCTACACATCACTTTGGCCCGGTGGGGTCTCGTCAGAAATGGCCACCGTGAGGCCCCACACCCCAGCATCACTATCTGGCCATGATGCTCTAGTACTCTGTCGAGTATGCCACCGTGAAACCTCCTAGGACTCCAGAGCCTCTGCAACAACAGGGGCAGCTTGGAAAGAAGCAGCAGCCACCTGCGAGTCCCTTCGTTAGCAGTTCATTCTGGAAAAGAGCATGACTACTCCCACCCTCCGTGTTCTCAGCCCCACAACTCCCCTGTCCCATGTGGTTCACATCAGTGCTAGTCACCGCCTTGCGGCTGGTCTACCCCAAGAGACTTCCCCTCTTGTCTACACTGCACAGACTGTGCAATGAGGGCACCATGGCACTCACTGGCAAGCATCCTTAGGAAACCAGAACTCAAATGATGTAGGGAAGTTACCAAAGGCTGCTTAGTGCTGGGACTCAGAAGCTGCAAGGACGTATCTCTCCAGAACCATCAGGTCAGGTGTAGGGAGGCAAGAGATGTTCCAATCTAGTGACAAGGTCTTAGAGTGAGGGAATGTCTTGTCCCCACCATGACTCACCCCTGAGTTCCTCCCTATCCTGTATCTTCCTCCAGAAGTTTAGGGCCCAGAGTGTGGCTGCCAGAGTCACCTAGAGCCACTGCATACACAAAGGCATCCTACAACCCACAGAGCAGTCTTTCTTGCTGTAAAGAGGGGTCCCTAATCTGTCCCAGCACAGAGCTCGCCTTGTTTTGTTTTTTGTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCGATGGCATAATATCGGCTCATCGCAACCTCCGCCTGCCGGGTTCAAGTTATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATCACAGGCGTGTGCTACCACGCCAGGCTAATTTTTGTATGTTTAGTGGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCGACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAGAGCTTCCTTTTCATGTCTCTGAGTCTTACAGCTCTCAATGG
|
pathogenic
| 341,467 |
Assess the variant on chromosome X, position 154097600, impacting MECP2 (methyl-CpG binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['MECP2-related_disorder', 'Rett_syndrome']
|
GTCTCAAGCTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGA
|
GTCTCAAGCTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGANN
|
pathogenic
| 341,476 |
Regarding the variant at chromosome X and position 154097608, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Inborn_genetic_diseases', 'Rett_syndrome']
|
CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGAT
|
CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTG
|
pathogenic
| 341,479 |
Is the genetic mutation found on chromosome X at position 154097608, within the gene MECP2 (methyl-CpG binding protein 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGAT
|
CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAA
|
pathogenic
| 341,480 |
Regarding the variant at chromosome X and position 154097608, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Rett_syndrome', 'Severe_neonatal-onset_encephalopathy_with_microcephaly']
|
CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGAT
|
CTCAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATNNNNNNNNNNN
|
pathogenic
| 341,481 |
The chromosome X, position 154097610 genetic variant in gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Rett_syndrome']
|
CAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATAT
|
CAGATGTACAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATNNNNNNNN
|
pathogenic
| 341,482 |
Classify the chromosome X variant at position 154097618 affecting gene MECP2 (methyl-CpG binding protein 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAG
|
CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTT
|
benign
| 341,485 |
Variant at chromosome position 154097618, chromosome X, gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAG
|
CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGT
|
benign
| 341,486 |
The genetic variant at chromosome X, position 154097618, affecting gene MECP2 (methyl-CpG binding protein 2): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAG
|
CAAACTTTGGGATCGTCAAGTGAGGCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGNNN
|
benign
| 341,487 |
Does the variant on chromosome X at location 154097642 affecting gene MECP2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGAT
|
benign
| 341,488 |
The genetic variant at chromosome X, position 154097642, affecting gene MECP2: benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTG
|
benign
| 341,489 |
Considering the variant on chromosome X, location 154097642, involving gene MECP2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGA
|
benign
| 341,490 |
Clinical significance of chromosome X, position 154097642, gene MECP2: benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTANNN
|
benign
| 341,491 |
Mutation found at chromosome X position 154097642, gene MECP2: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTANNNNNN
|
benign
| 341,492 |
Variant at chromosome X, position 154097642, gene MECP2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTA
|
GCTCGTGTGTATGCCTGGGGATATGACTGTATTCCAGTGATCAGCCACCTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTANNNNNNNNN
|
benign
| 341,493 |
Variant on chromosome X, at position 154097690, affecting MECP2: is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTAGGGCATAGAGCAAGGGAAGAAACAAGGATGATTCCTGAGATTGGGGCC
|
CTAGCTGACCTGCCACGAATGGGTGACCTGTGGTGACTTACTTTAATCAACTGTAGTACTTCTAGATTGATTGGGTGATTTAAGGTTCTGACATATTCAGGCAAGAAAATAAAAGCAAGTGTTTCCTAGACTTCCTCATTGGGATTTGAAATAGAAATCCTGAAAAGCCCATAAAAGCCTATTTCCCTAAATCCTTGGTGGAAATTCCCAAAAGATTAAAAAATCCAGACCCTGTCTTATTATAGGGACCCAGCAGATTTCAAAAGACTCAAGAGGTCAGCTTAATCTGGTTATTAACTGAAATTGCTGAGATACTGATGAACATTCCAGCCATGGAACCCAAAATTCTCTAGAGTAATAATTACCTATTAGTGCAATGTTACTACTGAGGCCGTATATGCTTCATTTTTACAGTATAACAAAATGTCTAAAACTTATGAGAGTCCTACAACGTCTAGGCCACTCAGTATCACATCCAAGTAGGTATGGTTCCTGGATCACCAACCAACCCCTGAATTCGATCCTGTTATCTCACAGTCTGGGGTACTGATCCCGCACAGCAGAGACACAACGTGTGAAAGGCTCGGCAGAGCCCATTCCTGTTCCTGGAAAAATAACCAGAAGCACACATCTGCCTGACCATGAGTCAGGAATATCAATTTTGTGGTGGAGCCCATTTCTGCTGTGACCAACCCACACCCGAACACACTCGCAACAGAAGCAACCGCCACAGAGCAATTCCAGAATGAGCTTTTTCCCCCTCGGGGTCCATACTTAGCAATGTCATAAACGGTCTCCCCTGCGACAGCAATCCTTTTACACTCTTCATAATGACCTTAAGTCTTTAGTGCAAAACCACAGAAACATTGCCACTGCCATATAAAAGTCATCTGAGTTTCAGTTTGGGTGATTCGGTCATGACCAAACTGAACAGAGGATAACCTTTCAGGCACAATTAACAGGAGCCACAGCGTCGCGATGAACTTGCCCCATCTGGTACCGGTGATCCCGAGCGCTCCAGGGCGATGAGAGCCCGTTACCTACTATGTCCCACTCCACTTATGTAACTGGAAGATCGCCGGCGAAGGGGAGGGTAGGATGGGAGGGTGCTCACATTCCGAGGCCACAGCACTCCAAAGAACCTCTGAGCACCCTGGGGACACGCTCGCACCTTAGAGCCTCTGGCGCCGAAGAGCCTCGGGTGCTGCTGGACGCACAGTCCCCTACCCACGGCTCCTGATGGGAACTATAACCACCTCTTTATGATGAGTTGTGGGACCCAGAACACAATGTCTAGTCCCTTTTGTGGATAATAATCCCCACCTACTTGTTCCTGCTAGATGGGGAAAGGAGCCGGTGGACCTACTCGCTCGCGGGGGGGTAGCGGGGGGCAGAAATTCATGGAATGGGCGAGAAGGAGGGGGAGGCAAAGCCCAGAGATGGGGGTGAGAGCTCAGGAGCCCTTGTGGCGCACTCTCCCGACGGGAGGCGAAGTGCGCACGCGCGCCGGTGGGGGGGCCGAGTAACGGGAGAGGGGGCGCGCGAGGGAGGGAGGGGGAGAGCGCGATCCAGGGAGAGGCCGGGGCCGCGGGCGCGCGACGGCGCCGCGGCCCAAAGCCCCGAGAAGGGCAGGAGCGCGCGCAGCCCCGACAGGCGAAGCCCCGGCGACAGGGGCGCCCGCGGGGCCGGGGGCCGGGATGCGCGTCGAGGGCGGGAGGAAGAGGGGCGTCAGGCGAAGGCGGCTCCAGGGAGGCCGCGCCGAGGACGGTCACCCGCGAGCAGGGGTGACGGGCCGAGGGGAGAGTCGCCACCGGCGGCGGCGGGAGGGGGAGGGTAGAGAGGAGGGACGCCATCCGCCAGCCGTGTCGTCCGACCCCGCGGGCCCCTCCCGCGCCACGTCCCGCCCCTGACCCCCGCCCCCCGGCAAGGGTCCCCGCCCGCGGCCACGGCGGTCCCACTCACAGTCTCTCCTCCTCGCCTCCTCCTCCTCCTCCGCTCGGCGCGGCGGCGGCGGCGGCGGCCATTTTCCGGACGGCTTTTACCACAGCCCTCTCCGAGAGGAGGGAGCGCGCGCGCCGCCGACGCCGGGACCCCGCACGGCCGACGTCGCGCCCCGCCCTCTTGGCCGGCCCGCGCGCTGCTGCACCTGCGCGCCCGCGCCCCGCCCTCGGCGCCGCTGCGAGCCCGCCCGTCATTGGCTGTGATGGCCGGGCTGGGACGGGGAGGACGGGGGAGGGGGGAGTCTCAGCGGCGATGCCGTCAATTGGCGAGATTTCCTGTCCATTTCGGCCAGGGAAAAGGGGGCGGACCCCTCCAGCTGTTGATTGGCTGCTTTCGGCCGTCGTTTGGGGAAAAGAGGCGGCTTGGGCGCGGAGGGACTGGTTTAGTGGGCGGAATTTGAATGTTAAGGATTAATGGACCCTTGCGGATGCTGGGGCAAGTGAAGGCCTAGGCTTGGGACGCCTGTTTGCGCTGCTCTGAGGGGCGATTGACCCTCTGTCCACAGATGCACCGAGTGCGCTGCAATAAGCGTTTCATTGCACCCACATTTTCTCAATATCACTATCTTCGGCAGAAGCAGCAAAGTTGCCCACCCTGGAGCCTGACGTTGCCCCAGCTGAGGGGCCTTGGTTTCAGAGGCCTACTCAATGCATTATTTCATCCGAGCCTGCCCAGTGCTCACACTCTCATAGAGGCGGGGAATAAACTGACAACAAATCGCAACCCTGGCTTTCGCAGAACTCTGGCGGGGGAAGAGAGTGCATGCCAAGGCCTCGTGACACCTGTCACTGTTGGATCAGATGGTTTGGTGGAGGTGTGAATAAGGGGCAATGTTAGCTCTGCCTGGAAGATATGATTTGGGAGCTGAGATCCAGCAATTTTTCACTTTCCTAGAAGAGTTGATTTGGAGCTGAGATCCAGCAATTGTGTTTTGGGAAAATAAGAGTATGAGAAAACTGTTAGCTAACCAGGTGTTCAGGACAGGAGTGTTTGTTAAGGGGACCTTACCCTGATGCCAGTCATTATCCAATCCATTCAATGATCCTTCTGTTAGTTCTATGCTTAGCAAGAAAACCTGATTCTGATTTGGCTGCTTGCCCCCATTCATTTATTGACTACCTGCTATGTGCCAGGCACTCTTCCAGGCTCTGGATGCACGGTACTGAACAGACAGCAAACTAACATTCTTGCCGGGAAGATTCATACTAGCATACAAATAAGTATAATATATCATTTCACATAGTGATAAGGGCTTTGAGAAAGATAAACTAAGTGAAGGGGGTGCTATTTAGATATCTGCTGGTTTTCACCCTCATTTTACTCCCTCATATGAATATCTGGGGAAAGAACATTCCAGGCAAGTTCAAAGGACATGAGGAGAGACTATGCCTGGCATGTTGGGGACTAACGAGGAAGTCAGTGTTGCTGGAGAGTGGTAGGGAATGTGATTGGAAAGGCAGCTGGGGCCACTATGAGAACTGGGAGTTCATTCTTTTTTGGGGGGGGTGGGGATGGGGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTGGCGCAATCTTGGCTCACTGCAACGTCCACCCTGAGCTCAAGCGATCCTCCCTCCTCAGCGTCCTAAGTAGCTGGGACCACAGATGCGAACCACCACGCCTGGCTAAGTTTTTGTATTTTTGATAGAGATGGGAGTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTCAAGTGATCCGCCCGCCTCGGACTCCCAAAGTGCTGGGACTACAGGCGTAAGCCACCGCACCCGGCCAGAACCGAGAGTTTATTCTAAGATGAGAAGCCCTCAGAGGATTTTGAGCCAGGAGCTGTCTGATCTATGTTGCAGGTGTAGAGTGGAGAACTGGACGTGATGAAACAAAACTACAGCACAAGGCTAGTTGCAAGGCCCTGGAACAGTCTAGGAGAAAGAGTTGATGGTAGCTTTAACTAGGGTGGCAGCAGTGCAGCTCTGAGAAGTTGTGAGATTCAAGATATGTTTTCAGAACTGAACAAAAGGATTGGATGTAGGGCATAGAGCAAGGGAAGAAACAAGGATGATTCCTGAGATTGGGGCCNN
|
benign
| 341,498 |
Chromosome X, position 154348850, gene FLNA: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II']
|
CCGGTGCCCTTGGTTCACCTAGCCCAGCCCTAGGGCGGTGGCCCTGCCAGGCATGGGGCTTGAGAGGGGATGTGATGGAGCAGACACAGGGAGGGGGCAGGAGACCCTGGGTGACTCGGGACAGGAGGGAGTGCCCCAGAGGTTCAGAATCCTGGGCACACAGTGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGA
|
CCGGTGCCCTTGGTTCACCTAGCCCAGCCCTAGGGCGGTGGCCCTGCCAGGCATGGGGCTTGAGAGGGGATGTGATGGAGCAGACACAGGGAGGGGGCAGGAGACCCTGGGTGACTCGGGACAGGAGGGAGTGCCCCAGAGGTTCAGAATCCTGGGCACACAGTGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGANN
|
pathogenic
| 341,508 |
Clinical significance of chromosome X, position 154349013, gene FLNA: benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II']
|
TGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACAT
|
TGGGCTGAGCGGACAAGTCGCAGCCTCAGGGGGACCTCCCGTCCTCCCAACTGGCACTGCATCTTTCTGGGCCTGGCTCTGCTGCCTCACAGCCCCGTTCAGCTGGTGGCTTTTAGAGGCTTCCAGAGTGTGCTTGGCCCCTTTACCTCTATGCCATTGGGCCCAGGGGGAGCAGTAGAGTGGCTGCGGCTGGGGGTGGGACTTCCCCTTTCTGTGTCTTGCTTGCCCCGTGTCTCCCAGTGAGTGGCCGCCCTGAGCCTGGGGCCAGCAGCCCAGCCCCAGTGAGAAATAAAAGTAGCCATCCTGCCTGAACTGCCGCTGCCTTTTCTACTTTGCCCTCTCAACAGGGGTCAAGGAGGGTACGCGTGGTGTTGAGGTCTCAGAAGGTCTGGGTTTGACGTGTGCCATGGCTGCAGGCTACGGCCTGGTCGTGTCAGACGCTGTGGAGCTGAGGGAGGATGTGGCGAGAAAGCTGAGCGTTGCCCCCGAGAGCCTTGCTTCCTGGCCCTTGTCTGCAGATGTCTGAGGTGGTGGTGTCCTTGTCAGGGGTTTGATCGAGGGCCAAAGCCTTTGGCCCAGGGAGCAGGCAGCTTTGGGTGCTGCAGTTGGGATGTCCCGATAGCATGCAGGCAGCACCAGGAGCCAGGACGACTTGGGATGTTATGTGTTTGGGGGCAATCTTTACAGTGGGAGACACATAGGTTGGTGTGGGAATCCACGGCAGGGGTACCAATGAGGGGATATTCAGCAGGGGGCCCAGGGTACCTGGGATTGGCACCTTGAATGCATCCACCTCCTGCCACCTGTTAACTAAAGGGCCCTGAGGCCCAGAGCCTGGGGGAGGGGGCCTCATCCCAGTCCCTTGTTTGGGGGAATGGTGGCATGGTGGCATGTTCAAGTTACCTGGCAGATGGCCAGGGCCTGCTGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCGCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCGGGCCTGCTGTTGATTATCTGGCCACCTCCACCAGGGAGCCTTCCTGACACCACCCTACCCAGTAATGGGCTCTCCTGCCCAGCTCTTTGCCTCCTTGCTGCCTGGGCTCCATTCCAGGTTGCTACATGTTCCTCTCCTTACGTTGGCTTGAACTCAGGGAGGCAGAGGAAGCAAAGATAGATGGTGCCTTCTGGAGTCAGGGTGGGGTGAAGCAGGAGCCCTGGAGGGAGGTGACCTGTGCTCAGCCCATGCTTTGATCTGCTCATTGGCACCCCTGTCAGGTTGGCCTTGACTGGTCCCCCAACCCCAACAAAGCTACAGCCACGCAAAGGAGAATGGAAGCAAAACTTTATTCCTCTTGGCTGGAGAAGAGAACTAGTGGGTGGTTGTGTACAGGACCCCCATCCCTCACCCCTCCCAGAACCAAAGAAGACAAGCAGCGCCACCAAATGGCTCCCTCTGCCCAAGTGAAAGCCGAGAGGTCAGCGGCTGGCTGGGGAGGCAGGTGAGCGCAGCACGGCACAGGGCAGGGGCGGCTGCAGTGACAGGCGGGCGGCCAGGGCGGCCTGGGCCGGGGTTGAGGGGAAGAGGGCGGGGCTGCTTGGGTAGCGGGGCAGGCTTGGGGGCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCGAACCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAG
|
pathogenic
| 341,519 |
Determine if the mutation at chromosome X, position 154350871 in gene FLNA (filamin A) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
GCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCAC
|
GCTGCCGGCTGGCACGGGCCCCAGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACNNNNNNNNNNNNNNNNNN
|
benign
| 341,579 |
Gene mutation in FLNA (filamin A) at chromosome X, position 154350893—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
AGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACC
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AGACTCAGGGCACCACAACGCGGTAGGGGCTGCCTGGGATGTGCTCGTCCCCCCATTTGACCACCAGTGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAGAGCCGGCTGCCCACGTGCTTCACCAGGATCTCCTCGCAGGGGGTCCTTGGGCCATGAACCCCCACCAGCAGCATGTTGTTGCCTGAGGCAAGAGGGGTCCTCAGTCCCAGGTCCCAGCCCCCTTCCTCCCGCTGGTGTCCTGCTCTCCTCTCCTGTCCCTAAGCCAGTTCTGGGGTGACAGTTCTCTCTTCCTAAAGAGCTGCCAGCACCTCCCCAACCCAGGCCAGCTTAGCAGATTCCAGCTCCTCCCTGGTCTTTGTTTGAGGGGTCCAGGAGGTGGCAGGGAGGTGGCTCTAGAAGTGAAAGCCACGCCCCAAAGGCGGTCCCTGCTCTCCCAGACACTGGCCATCCTGTGATTTCTGGCCTCATTTTGGTGGGAAGGTGGGCCGGGGGCCCAGGTTGCCCACCTGCTTTGCTGCAGTCTACTGTGAAGCTGCTCTTCTGGCCTACGTAGGCCTTGCTCAGCCCCAGGCCCTTGGCCACCACCTTGCTGGCGTCAGCAGGCCCAGGACCCGGGGCCCCATGCTGGGGGGCACAGGTGGCCTTGGTCAGAGAGTCTACAAACACTGATGATGTCTCGTGGAGGCTGTGGTTGCTGACGAGACGGGGGCCTGCAAGGCAGAGTGGGTGGGGCTAAGAGGTGGCTGTGGTGCCGGGCGTTGGGCAGATGCCAATAGCTTGGCCCCAGGCTCACCTGTGACTTTGGCCTTGAAGGGGCTGCCCCCAATGTGGTAGGGGCCGCCGTACTTGATGGAGATGAGGTAGCTGCCAGGTGCCATGGGGGTATAGGTGACGCGGTAGCCCTCAGGGCACTCCTGGCAATCCATCTTCACCTTGGAGGGGCCGTCAATGGTCACCGACAGGGCACCAGCTCCCGCATTGCTCGTGTTCACGACGAACTCAGCTGGGTTCCCTGGGAGCACAGGAGGTCAGGCAGAGCCAGACTGGCCTGCCTCCCTGTCCTCGGCCACCCAGCACAGGCTTGTCACCTCCAGGTGCCTCCTGTTGTCACCAAGAGCTTGGAGGCAAGGGCCTAGCAGCTGTGTGCACACGTGCAGCCGCACCGACAGACTTACCTGTGACACCGCCTTCCAGACCTGCTCCGTAAGCAGACACCAAGCCTGGGTCCCCTCCATGCCCAGGCTCCCCAACTCGGATCTTGAAGGGGCTTCCAGGGATGTGGGTGCCGTTGAACTTGACGTCAATCAGGTAAACGCCATTCTCCCGAGGGATGAAGCGCACAGCATACTTATCTGAGGAGCAGGGAGTCATGCTGTGGGCCTGGGGCCCCTCCTCAAACCAGCAGATGGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCNNNNN
|
benign
| 341,581 |
Clinically, how would you classify the variant at chromosome X, position 154352311, gene FLNA (filamin A): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II']
|
GGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGC
|
GGTGTCTGTGAGGAACAGCCTCAACCCTGGCCCTCCCCATTTTGCCGGTCCATCAGTGTGAGCCCAGCCACGCTGGGCACCTGCACCCCGCAGCAGACCTCCTGAGGGCCGAAGGTTTAGACACTCAAGCTGCCCACCGTCAGGGTGCATTGGGACGGAAATCTTTTACAAGCCAAACCCAGGCCTTGCTGCCTCCTAAGAAAGGTTACCGTGAACACCATATCCCCTGCATGTTAACAGGCTCAGAGACGGGCAGGAACTTGCTTCAGGTCATGCAGCTGGGAAGGGCAGGACTAGGCCGTGAAATGAAGCCCACTGGGCTCCTCCTACCCACAAGGCTGCCCCAGGCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGCNNNN
|
pathogenic
| 341,616 |
The genetic variant at chromosome X, position 154352658, affecting gene FLNA (filamin A): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II']
|
GCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCACAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGCTCCTTCCCAAGTCCCCACTCACCTGTGATCTCGCCCTTCTTGATGGTGAAGGGGATGACAAGGTCAAAGGGCCTCAGGCTGGTCACATCCAGCCCATTGACACCCACCAGGGGCCTCTCCGGGGCCTGCAGTGGAGACACAGGGCATGGGTGAGGGACAGTGGGAGGATCTGGGGTCCCTCCTCACACATGGTAAACTAGGGGCTCACAGAACACCCAGCTGGCTAGCCCCAGTGTCCCTAGCTGGCCAGGCCGTACCCAAGTCTGCTGGCCGCCCTGGGCGTAGGTGTACTGTGGGGCCAGCTGCTGAGACCGTAGAGGGGGCTGCACCGAGGGCTGGTCCCCAGC
|
GCCTGTGCACAAGTACCATGGCCGTGGCTGAAGGGCCGGGCAGCACTGAGGCTGGACTTTGAGTCTTTCCCTGTGGAGATGGCATGGTACTGCAGGGTAGAAGGCCTTCCTAATAGCTGTGGGTGGCGAGCCACATCCCCAGCGGCTTGGGTCACCAATTGGGAAAGGGTTGCCTGGCTTAGGGGGCCCAGGAGTTGGGGCCCCGTCTTGGCTGCTTACAGAAGCGGTACCTTCCTTTTGTACTCTCAGCCTGCTTCCAGCCAGCAGGGCAGGGCGGCCGGGCAGGGACAGGGCCTCACCTTGGTCAATTTCTGTGACATAGCACTCCTCCAGGGCTCCTGAGGGGCTGTGCACCTTGGCATCGATCGCCCCCTTGGCCCCGTTCAGGCTGACTGCAAAAGAGGCTGGCTGGTTGACCTTTAGCCCTGACTCCTGGAAGCACAGCAGACATGGTTAGATGGGGGTGCTTGAGCCAGGGCAAGGGAGGACGGAAAGGCCCCAGGAGCAAGAGGCCCGCGGGTCGCACTTACCCATCTGGCGTCCAACTTGGTTTAAAGAGGGAGAGCCACTGATTTGCAAGGGGCAGCAAGCCACAGGCGCACATCCCCGCCCCTGCCCCCACACTCTGCCGTCGCACACACCCAGGTGGCAGGAAGGGAGGGCTGCCCCACCCTGTGGGCAGCACCCAGCCTTGGCAGGCTGTCCCTCTTTAAACCGCAGCCCTGGTGCTCAAGGGGCACAGGCTTCTGTTCAAAGCCTTTAGACCTGAGACACGAGAAAAACTCCACGTGGTGGGCAGGATATTTCCTGCCGACCCCAAGCGTGGGCTGCACCCGGCCAGAGCAGAGGCCTGGAACCCAGAGCTGGGCCAGGGGGGTCACTGAACACAGGGCCAAGGCCTGGTCTCTGCGGTGGCTCTGGTCTGTCCGGGCCCAGGAGCCCCAGGTGGGCGGTTTCTCTCGGTGCCTCACCTGAAGGCTAGAAACAGTGAGGCGGCGGGCGTCGCCAGACGGAGAAGCCACAGGCACCACGAAGGGGCTGTCGGGAATGTGTTCCTCGTTGAACTTGACTGAGACTTCGTAGTCACCTGGGCAGGGAAAGAGTGTAAGACCGGCTCATCAGCCTTTGGGCCTCCCACCTCCCACGAACAGCCTGGGTGGCCCTGTGACCTCAAAGTGAAGAGTGAGTGCCAGGCAGGGCTATCTGTGCCAGCCCTGGGTCCAATACCCACACTCAGGCCCCACCTCCTCCAACCCCAGCCGGGTTCCCAGTACCTGGCTCCTGGACCACATAAGCCACACCACAGGAGCCGTCCTTGCGGTCCTCAAAAGAGATCTCAGCCTTGCTGGGGCCCTCGACAGCAATGGCCAGGCCTCCAGCACCAGCTTCCCGGGTCCAGATACTGAATTCGGCTGTGGGAGAACAGTTTGTCCTCACTGAAGGCTGCTTCACCAGCCTCGGCCCCCTCCAGGCATAGCCAAGGTAGACATGCCTGCCGGCTCTTTCCTCCACCCCCAACCCCACCCTGGCCAACGCAGGAGAGCGAGCACTCGGGGTGTGAGCAGGCCTACCTGGCACTCCAGCTTCAGCTCTCTCCAGGCCAGGGCCCCCAGCTCGGACCTTGTGGGCTCCCCCTTCCCCTAGGGGCCCCACGGTGAACTGGAAGGGGCTCCCAGGCACGTGCTGGCCCTTGTACTTCACGCTGACTGTGTGTGTGCCCATCTCAGCGGGAACAAAGCGGATGCAGTAGGTGTGGTTCTCCCCTTCCACGATCTCGGCCTCATGGGTCTTGCCCGATGGGCTGGTCACCTGGGCTGTCATATCCTGGATGCTAATTTCTGCAGGGTGGGGATGGGCTAGTGAGCAGCAGCCCTGGGCTCCACCCCTCCTCTTGGGGCTGCTTGAGCCCCAGGACCCCTCCCCAGGCTTCCCACAGCCCCTACCAGGGATTTTCAGGCTGAGGTCACAATGACTACCAACGTTGGCCACTGAAGGAGCCCGACGCCTGCGGGTGATGCTCTCTTTCACCCGGCCCTCGCCTGTCACCTTCAGAGAAGGGGCTGCCTGCAGGAAGAAAGCACGGCCCACGCCCCTCCAGTCACATACTGCCTGTGGGCCCTGGTGTAGTGAGGGGGGCTGCCGAGGCACTGCTGCACTCACCAGGCACGTGCTGGTCGGCAAACTTGATGTTGATGATGTAGTTGCCTGGCTCTGTGGGGCAGTAGGTGACCCTGCACGTCCCGTCCTCCAGGTCCTCTGTGTTGATGTCCACCTTGCTGGGGCCCTCAATGGACAGGCTGAGCCCACCATAGCCTAGGGGATGGATACCCCTGAGCCTCGGTGCTATGCACAGTGCTCCCGCCCCAGCTGGTGGGCAGCCACTGCCTACCTGCATCGCGGGTATCAATGATAAACTCTGCAGGCTCAAAGGTGTGGCCTTCGTGAAGGCCCTGACCAGAGACCCGAACACGACTGGCATCCCCAATTTCCGACTGGCTGATCACCACCGGGATGGGGCTGCTGGCCACGTGCTGGCCATTTTTCTTCACATGCACCAGGTGCTCCCCCGTCTCCTTGGGCACGAATGAAATCCCTGGACACAGGGCATGGCTGTCAGTCAGGGAGGGCATGGCTCCCCACAGGCTGCCTCCTTTCTGAACCCCCTGGACCCTTCAGCCGCTTACCCACGTGGCCATTACGCAGCCGCTTCAGCAAACAGGGCTCCTCCCGGCCCGAGGGCGGGACCACAGTGGCCGTCAGCAGGCTGAGATCCGTCTCTGAGATGTTGATGGGGATGTCGGCAGCAGAGCCGACCTTTAGGTGGGACATACGCATGGAGTCGTCACCTGGTGGGGACAGGCCAGCCATCAGTGTGCGTCCAGCCATGGGAGACCATGCCCACCCTGCCACCCGTTTCTGTCACTGCTCCCAGTGCCACCCACCTGTGACCCGAGCAGTGAAGGGGCTGCCTGGGACGTGCTGTTCATTGTACTTGACTAGAATGCTGTAGTCCCCCGGCAGCACAGGCAGGTAGGACACGCTGCATGTCCCATCCTGGTTGTCAGTGCAGCTGATTTCTGCTTTGGACGGGCCCTCAATGGCCAGAGACAGGCCCCCTGGAGAGAGCCGTGGGTGAGCATGGGAACTATGCTGGGGACACTCCAGTTGGCCTGCACTGAGGAGCTCCGATGGCCAGGGCAGCAGGGCAGGGAGCCCCATTCAGGAGTATCTCCTGAGTCCAGCCCTTACCCCGGTGAGGGCATCCCGGGCACAGAGCAGGTCAAGACCAGAGCTATTGCTCACCCTCTCCTGCATCCTTGGTGTTGACGGTGAAGGTGGCAGGCTTGTTCACTACTCCATGGGTGAGGCCAGGCCCATAGGCAGTGACATGGCCACAGTTGACGTAATCCACATAGAACTGCAAGGGGCTTCCTGAGGCAGGAAGAAGGGCCTTGTGGAATGGCAGCCTCGTGTGTCCCCCAGCCCCATCTCTCTGTGAGGTGGTGGCGGTGGAGTGGGCAGAGGCAGGGCAGGCCCACCTGGGATGTGCATGTTGTCATAGCGGATGTCCATCTCGTGCAGGCCAGCCTCGCTGGGTGCATACCGCACGGTCACGGTGCCGTCTTTGTTGTCAGTGATGGTGGGCTGCGCCACCTTGCCTGAGGGCATCCGAACCTCCCCTGTGGGGCAGTGGGGCTGAGGTCAGGGCAGCTCATTGGCACAGTCTGGCCTCCTTGGCTCCCGAGCTCCTTCCCAAGTCCCCACTCACCTGTGATCTCGCCCTTCTTGATGGTGAAGGGGATGACAAGGTCAAAGGGCCTCAGGCTGGTCACATCCAGCCCATTGACACCCACCAGGGGCCTCTCCGGGGCCTGCAGTGGAGACACAGGGCATGGGTGAGGGACAGTGGGAGGATCTGGGGTCCCTCCTCACACATGGTAAACTAGGGGCTCACAGAACACCCAGCTGGCTAGCCCCAGTGTCCCTAGCTGGCCAGGCCGTACCCAAGTCTGCTGGCCGCCCTGGGCGTAGGTGTACTGTGGGGCCAGCTGCTGAGACCGTAGAGGGGGCTGCACCGAGGGCTGGTCCCCAGCNN
|
pathogenic
| 341,628 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 154357635, gene FLNA (filamin A). What disease(s) is it linked to if pathogenic?
|
benign
|
AGAAGGCTCGCGGTGAAAAGCAGCCCGGTGCAGACAGGAGTGGGAGCGGGGAAGCGGGAGGCAGCGGGGTTAGCACCCGAGTAGCGCAGCGCAGCAGGCTTGGCAGAGCGGGGATAGCACCCAGGGAGACAGGGAACAGGAGGCCCAAGCTACAGCCACCACTGCTGGGTTGCGAGGGCAGAGCAGCTGAGCAGGCTCCAGGGCCCCAGAGTGCCCGAGGAAAGGGGAGAGACAGTGACGTTATGATCTGGGTCTCCGCCGTGGAGGCTTGGGGGGCTGTGGGCTGTGAGGCCTGGCAGTGAGAGTGCCCCCTGCAGCCTGGCCTCCTGCCAGGGAAGCAGCCAGGAGCACGAAACCTACTTGAAGGCCAAGCTCGAGGGGCCCTGCCACCAAGTCCCACTATCGGCCGAGGGCTCCTGCTGCACTAGGCTCCATGCTGGCCTGCCGCGGCCAGGCAGCTCTCCCAGGCTCCAGACCTGGCTGCCGGCTGCCCACGCTGCCCTGGGAGGCTTCACTCATGTGCACCCCATGCCATCTAGTTAGTGGCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGG
|
AGAAGGCTCGCGGTGAAAAGCAGCCCGGTGCAGACAGGAGTGGGAGCGGGGAAGCGGGAGGCAGCGGGGTTAGCACCCGAGTAGCGCAGCGCAGCAGGCTTGGCAGAGCGGGGATAGCACCCAGGGAGACAGGGAACAGGAGGCCCAAGCTACAGCCACCACTGCTGGGTTGCGAGGGCAGAGCAGCTGAGCAGGCTCCAGGGCCCCAGAGTGCCCGAGGAAAGGGGAGAGACAGTGACGTTATGATCTGGGTCTCCGCCGTGGAGGCTTGGGGGGCTGTGGGCTGTGAGGCCTGGCAGTGAGAGTGCCCCCTGCAGCCTGGCCTCCTGCCAGGGAAGCAGCCAGGAGCACGAAACCTACTTGAAGGCCAAGCTCGAGGGGCCCTGCCACCAAGTCCCACTATCGGCCGAGGGCTCCTGCTGCACTAGGCTCCATGCTGGCCTGCCGCGGCCAGGCAGCTCTCCCAGGCTCCAGACCTGGCTGCCGGCTGCCCACGCTGCCCTGGGAGGCTTCACTCATGTGCACCCCATGCCATCTAGTTAGTGGCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGN
|
benign
| 341,762 |
Is the genetic change at chromosome X, position 154358180, within gene FLNA (filamin A) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Cardiac_valvular_dysplasia,_X-linked']
|
GCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCT
|
GCTTGGGCCCCAACCTCACAGGTACCCGACTGCCCCCACTTTCCCTGCCCGGCTCCCAGCCAACCGCAGGTCTCAGCCACTCCATCCTCAAAGTATGCCTCCTAATTTGGCTCTCACTGAAGCCCCGTGGCCGTCAAGCTTGCCAGAGAGCAACTTCAGCGCCCCCTTCCCCACCCCGGGCTCCCTGTCTCCATTCTGCAAACAGTAGCCAGGGAAACTGAGGTTACTGAGTCTTGCTCCCACCCTCAAAGCCCCCAAGGCCCTGCAATCAGTACTCCCCAGCCTCCCCCGCCCTGCGCACACACGCCTGTCACACACACATCGGATCCTACGGCCTGCTCTATAAAGCCATCTCGCTCCTGCCGCAAAACTCTAGCCACCCTCTCACCCTTTCCTTAGCCACCTCGCCCAAGTGCCAGGCCTGTAGCCTCTCATCAGCATCCCTGGGTGTCCCTGGCTGGGGCAGGTGACCCTCCATGCCTGTTGGGGAATGTCTGAATAACGTCACTGCTGGGGGATAGGGGAAGGGGGAAGGAGGGAGACGGGCCACAGAATGCACTTTGGGGCTCTGAGGCTGGGCCGGGCCCCGCCATGCTGGCCGCCCAAGCAGTCGACACTGGCGCTACTGCACTACCAGCCAGCCCCACCCGCTCATGCACCTCCCCCGGCCCGGGACGCAGAGGCCCCTGGAAGGTGGGGATGGGGGTCTGTGGATCTGGCCAGGGCTGGGGCTCCCATTGAGTTGGGGAGACCCCTTGTTCCCTCAGCCCACGCAGGAGCCCTTGTGCCTCCCTGGGTGCCAAGATCCCGAGACCCCAAAGTCCCCAGTGGGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 341,763 |
Evaluate the clinical significance of the mutation at chromosome X, position 154359010 in gene FLNA (filamin A): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Heterotopia,_periventricular,_X-linked_dominant']
|
GGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAA
|
GGGTGCCTCTCAGGATGCACCTCACCCCAAAGCTCTCAGCTGCAACCCGAGTTCTCAGATGGGGAAATAAAGGCCCAGAGAGGGGAAGAGCTGGAGCGGTCATGCTCAGCTCCGGAAGCCTCCCTGGGCCCTCGCCCTCCAGCCCACGGCCTCATCTTCTGCACCCCACCCAACTCTGTCCCTGCCTAGAGCTGCAGCTGGAACTGTCCTGGGAATCGGCCCCAAGAGGAAAGGAAGCTGCCCCTCTGGGCAGGAGGGGCATTGGGAGTGGCCCCAGCAAGCAGCTTACCTAGCCCGTGACCTCCGATTGACACTGAGGTGAGAGGGCAGAGAGCAAGGAGAAAGGTCAGGTGAGTCACTCAAGGGGGCGGCCCCCACTCCCACACGCCGCCCCAAGCAGCGAGCCCTTGCACACAGGCACAACCCAAGCCCCGTGCCGAGCGCCGCAGCGGCCAACAGCGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAA
|
pathogenic
| 341,799 |
Variant on chromosome X, at position 154359469, affecting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGAC
|
CGGGCGGGCTCACCTGTGACAGTGCACTTGCTGGCGTCCCCGGTGGGCACGGCACGCACGCGGTACGGGGAGAAGGGGATCTCGTCACCACCGTACTTGATGAGGATGGTGTAGCGACCTGTCACGTCTGGCACGTAGGCCACTGTATACGTGCCGTCATGGTTGTCTTGGATGTGTGTCTTCTTCGGCTTGCCTTCGGGATCCTGTGTGGCAGAGGCAGGGGAGGCAGTTGGCCCAAGCCCGAGTAGCCCCGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACT
|
benign
| 341,812 |
Mutation at chromosome X, position 154359720, within FLNA (filamin A): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
CGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTG
|
CGGGCCTGCCTCAGGCGCTCCCAGAGTGCCCAGCGCTGCTGCTACAGGGACAGTCTCTGGGCCTCAGGCATCTTAACTGCTATGGCCCAAAAGGGCTGCCTGCACCTGGCAGAGTCCAGAATGGAGACTAAAACATCCCACACTTCCCACATGACAACAGGCGCGGCCAGCCAGCTTGGCACCCATCCTCAGCCCCAGGGCCTGGCCAGCACTAGGAGGAGCTCACCGGGGTGATCTCAAGCTTCTATCCTATACCTGCCCCATGAGAATATTACAGGTGGGGAAACTGAGGCACAGAAGGCTTTGGTGACGTGCTCAAAGTTAGCAGCAAGTGCACGTCTGGGGAAGCCTGTGCCTGTCACCACCATCCTAAGGTAGTCACAACCTTAGCAAACCAAAGACAGGGGCCCTGTCCTTCCCTGCCCTCCTTGGTGCAGCTCCGCAGGGAGATCAGACACCAGCCACCCGCAGCCCACACTCCAGCCGCCCAGGCCCCCCTGCCTCCCCTGCCTGTGCCCGGAGCTCACCGTGATCTGGACAGCCAGCAGGCCCTCCCCGGCGTCCTTTGCATCGATGGTGAACTCCACGGGCAGGCTGGCAGGCACGCCAGTGGTGTTGAGCCCGGGGCCACTGGCCTTCACCTTGCTGGCATCATGAGTAGGCAGCACCTTGACCTTGAAGGGGCTGTGAGGGATTGGTGTTGTGAGCAGTCAGACAGGTTCTCAGCATCCAGCCTGGGCCACTCCCCACAGGCAGCAGGCCCTGCCTCTTACCTCCGGGGTACCTCTTCATCTCCATACAGTACTGAGATGCTGTAGGGCCCTTCTCGGCTGGGCACATAATTGACGGTCTGGGTGCCATCAGCGTTGTCTACCACGTCCACTGGCTCCACCAGGCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCTCCTGGGCCTCCATTCCTACCCCACCACACTGGACGGCCAGGACCCAGCCCCAGGCCTAGACCTCGCTTTATCCTCATCCACCCGACCCTGGGAATGGCCTTGACCCCCTCTGGCACGAAAGACACCCATCTGGGTGCCAGCTGGGACCCTTGCCTGCCTGCCTTCCTGCCACATCTGCTCAGTGACCAGTCCCATCTGCTCTACCTCCTCCAAGTCCCCCACCTGGCTGCACTGTCACCTGAGGCTCTTCCAAAAACACCTACACACTTGCACCACCTCTGCACTCTGGTCCTCACTTTGGGCCTCCAGTTTCCTTTCCCGGCCCTCAAACAGGACACTGCCCTCCTGACCCCTGGCTCCAGGCATGCAAACACTCACCTTTGGGCCCTTGCACTTTGACCTGCAATGGGGCCACACCAGCCTTGCTTGTGTCCACCTGGAAGGACTGAGGGAGGTTGGCACGAACCATGCCTGGGCTCAGGCCGGGCCCAGAGCACTTGACCTTGGACGCATCTGTCACATCATGCACAGGGACCTTGAAAGGACTGCCTGAGGGTTGGGGCAAAGGGATGGCGGCTGTATGAGACAGGGTGGGGACGAGCAGACAGTCCCAGCCCTGCCCTGGCCGCCACCTCCTCACCTGGCACTTGATGGCCACCATAGGTGACGTTGAGGCTGTAGGTGCCAGCCTCATAAGGGATGTACTCGACCGAGCAGCTGCCGTCCTTGTTATCCATGCAGGACATCTTGGCCTCGGAGGGGCCCTCTACAGCCAGGCCCAGGCCGCCCGTGCCAGCTCCCCTGGTCCAAACAGACAGCCGGTCATTCCTGGGGTTCCCAGGCCCACCAGCCACACGGGCTCCTGGGGGCTCCCTTACCTGGTCTCCACAGTGAACTTGTTGGGCTTGTTGGTGGTGCCACTTTGGATGCCTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGNNNN
|
benign
| 341,820 |
Does the variant on chromosome X at location 154361584 affecting gene FLNA (filamin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
CTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGT
|
CTGGCCCGTGGACACGCACCCGGGAGGGGTCGCAGCCCTCGGTCACGGGCACCTGGAAGGGGCTGCTGGGCACGGGACTGCCGTCATAGGTCACGTCCACGGAGTGCAGTCCTGGAGGAGTGCAGGCCAGGTCAGGAGGAGCCCGGGCCACCCCACCCACCCCGTCTGCCAGCCTGTGGGAGTCCCCAGCACGCACCCTCCTCGTAAGGCGTGTACTCCACTTTGTACATGCCATCGCCACGGTCCTGAACGTAGGTCTCCGTCAGGTTGCCTGAGGGGTTGGCCACACGGGCCTTGACGTGCGGCCCTCCGGTCTGTGTCAGAGCCCGGGCGTCCACACTGAACTCAGTGGTGGCCTCACGGAAGACACCTGCAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTG
|
benign
| 341,901 |
Clinically, how would you classify the variant at chromosome X, position 154361957, gene FLNA (filamin A): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
CAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCC
|
CAAAGGCACAGAGAGGAGGCTTGGGGCTCGGGGGTTCTGGTCCCTGTCCCCCGTCACATACCCCACGGCAGGGCAACTCACCCTGGCCCTCAATACCAGGCCCATAGCACTGGACACCGGAAGTGTCCACCGCAGGTTCCACCTGCAGCTTGCTGGGGAAGTTGGGCACGGGCTGGCCGCCGTACTTGATGGTGACGGTGTAGGCCCCGGGGCAGAGGGGAATGTAGGTAATGGTGTGCGTGCCATCACCGTGGTCCTGGATGTACACCTCGGCCGGAAGCCCCGCCTCCGAGCAGATCTCAATGGTCAGCTCCGCGCTGCCCGCGCTCGAGCAGTCCACTTGGAATTGGCCCACCTCCCCAGCGGTGGCCCGCTCCAGCCCGGGGCCTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCNN
|
benign
| 341,908 |
A genetic variant on chromosome X, position 154362344, affects the gene FLNA (filamin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
benign
|
CTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAG
|
CTGAGCACTTGACTTTGGATGCGTCAAAGCAGGGAACCACGTGGGCCTTGAATGGGGAGCCAGGGATGTGGGTGTCAGCGAAGAGGATGTTGATGTTGTAGTCCCCGGGCTCGGTGGGCACGTAGGACACGGAACATGTGCCATCCCCATTGTCCAAGCACTCGAGCTGCGCCTCACAGGGGCCCTCCACCGTCAGGCCCAGGCCACCTGTGCCGGCGCCCTTGGTGTCGATGGTGAAGCGGGCGGGGGAGCCCGCACTGCCTCCCTGCAGCCCCGGCCCAAACGCCTTCACCTGAGGGAAGAAGGGGTCAGGAGCCAAGGCCACACTATGCCCCGATCCCAGACCTCCTGCTTGACTTTCCACCTGCCTCCCCTTGCCCTGGCTTCCTGCCCTCACCAAACAGGGACACGGGCGGGCCCAGGCTGCCTGCCAGATGGGCCATCCATCAGTCATAAGGACAAAAAGGAGGGCAGGGCGCGGTCACTCACGCCTGTAATCTCAGCCCTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAATCTCGTCTCTACTAAAATTACCAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGTATTGCTTGAAGCCAGGAGGCGGAGGGTGCCGTGAGCCAATATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAGAAATTCTTCAACCCTGATGACTTTTTGTGGGTTTCTATTTCCCTCCTCCCCTTTACTCTCACTTAAACAGGGTCAAGGTTGACAGTCTGTCTCAGGAAAAAAAAAAAAAAAAAAGGATTTAGGGCAGGTCTGGAGAAGATGGGGTACCTTTGGGGCCCTCAGAGAGCACAGTGGGTTCTACCCTTAGGGCCTCCCATACCCCAATTACCTTGCTAGGCTTGGTGGGGGCCACAGCTTCCAGAGGAAAGGGGCTGCCAGGCACGGGCACGCCGTCATAGGTCACCTCCACCTCATAGGGCCCTTCCTCACGGGGCAGGAAGCGCACCACACTGTTGTCAGCCCCCAGGCCTGGCTCCACCTTGCAGGGCACCGCTGCACCCGAGGGGCCCACAATCTTGGATGCCACTTTGCCTTGACCACCAGCACCCTTTGATTTGACTGTGAACTCCTGGTCTTTGCCAACGTCCACCTCTGTGGAAACGATGAAAGGAAGGAGAGAGACATGACACCCAGCTCAGCCAATCCCTGGATGTGACAAAGGCCTTTGCGACAAGGGCCCCAACTACTTACTCTCTCCCAGGCCAGACACCTTGATCTTGCTGAGGTCCAGGCTTGGAGATACTGCCACTGAGAAAGGGCTCTTAGGGATGGGATCCCCTCCATAAGTGACATTGACGCCTACTGGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACCTGCTGGACAGGCGTGTACTTGACTGTGTAGGTGTTGTCATGGTGGTCGATGATGTCCACATCTCGCACTGCATCCCCCTTGGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGNNN
|
benign
| 341,926 |
Determine whether the variant at chromosome X, position 154364108, in gene FLNA (filamin A) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II']
|
GGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCT
|
GGTGAGTCCTGAGAACTGGACGTCCAGCTTGCCTTTGCCAGCAGCTTTGGCATTTACTGTGAAGTGGGTGGGCTTGCCAAGCTCGACACCTGAGGAACACACAGGGACCATGTAGGGGCACCCTGCCCCAAGCCCTCCTACCCTTGATGCCCCGCAACCTGCCATGGGGTACCTGTCCTCACCAGTGCGACTGAGGCCAGGGCCCTCGGCCTTCACCTTACTGGCGTCATGAGAGGGCTCCACCTTGACTCGGATGGGGCTGGTGGGCGTGGCCTGCAGGCAGTGGGAGGAGAAGGCCTTAGAGGAGGGCAGACGTCATCCGCAATGACATCTTAGCGGCCAGGAGCGCAGCACCCACCTGGTCAGCAAAGAGGACCATAATGGTGTAGCTGCCAGCCCCCCGGGGCGTGTACTTGACCGTGAAGGTGTCATTGTCATTGCGGATGATGTCGAAGTCGATGTCAGCTTCGGCGGGGCCTACCACTCCAGGGGCACACTTGATGCCGATGCTGACGTCCCCTGCGGCGGGGAGAGGAGCGGAGGCTGAGACCTCGCAGGGACACCCCAGCCACCTGCCCTCCCACCCACAGCCAGGCCTTACCCTGGCCAGCCTCGGCGCAGTCCACAGTGAAGTAGGTGGGCTCGTGGGCCTTGAGCCCTGTCTTGGCTACTCCGGGGCCGTATACTTTGACCTTGTTGGGGTGGCTGCCAGCTCCCACATTCACCTGCAGGGCACAGGGGCAAGGGCAAGGGCATGAGCAGCCTGGAGGAGACTCAGAAGCTCCCTCAGCTACACTGGCAGGCACACAAAATGGTCCAGCTGCCTTGGGAAGAGTCTGGCAGTTCCTCAGTTGACCACAGAGGGACTGTGTGATGCTCCGGTTCACTCCGAGGCAACTACCCAAGAGAAATGAAAGCAAATGTCCACGCAAACACCTGGACTCACTGTTAACAGCACTGTTCATGATCACCAAAGGCAAGCTCATCCTCAATATCTGTTAGCAAGTGAACGGAAAAATGGAATGTGGTCTGGCCACACAATGGAGTATTATGCGGCCATAAAAATAAATGAAGCGGCCGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCGGACCACCTGGGGTCAGGCGGTTGAGACCAGTCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAATGGTGGCGTATGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGAATTGCTTGAATCTGGCAGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACTCCAGCCTGGCAATAAGAGCAAAACTCCGGCTCAAAAAAAAAAAACCAGGATGGGCGCGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTNNNN
|
pathogenic
| 341,961 |
Variant in FLNA (filamin A), chromosome X, position 154365501—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGT
|
GCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGACACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAATACAAAAAATTAGCCGGGGGGGTGGCGGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAAGACAATGGTGTGAACCTGGGAGAAAGAGCCTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCATCTCAAATAAATAAATAAATAAACAAAATAATTATAAAGGAACAAAGTGCCAAGACATGCCAAACATGAACGAAAACACGGAAAACTTCGTGGTGAGCGAAAGAAGCCAGACACAAAAGGCCACATGGCACACAGTTCCATCTATAGAACATGTCCAGGATAGGCAAAGCCACAGCAGAAAGCAGGTTAGTGGTCACCAGGAGCTGTGGGACAGGGGAGTCAGGATGGTGTGCCACAACCACTTGAAATGGACGAATCGTGTGCTACGTGAATGCTATCGAGATGGACTAAAGGCCGGTGGAGGTTGGCTCACCCTGAAGGGGCTGTTGGGGATGCTGACGCCTCCCCAGGACACCATGGCTGTGTGCTTCACCGGCTTCCTGGGCACGTAGGAGCAGCTGTAAGTGCCATTGCCGTTGTCCTTGACCAACGCCTCCACAGGGCAGCCTTCATTGTCCTGTCAGGCAGATAGGAGCAGGTGGCCTGCTGGTCAGTGCCCAGGCCTGGGTGCCCACACCTGCCCTGCCCCCAACACCCGTGGGTGCTCTACCTGGACTTGGACCCGAAGTGGGGCCTTGCCACCGTGCTTGGCATCCACTGTGAACTCTGCTGGCTTGTTGACGGCCACACCTGTCTTCTCCAATCCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTN
|
benign
| 342,026 |
Assess the variant on chromosome X, position 154366401, impacting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Frontometaphyseal_dysplasia', 'Heterotopia,_periventricular,_X-linked_dominant', 'Melnick-Needles_syndrome', 'Oto-palato-digital_syndrome,_type_II']
|
CCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAG
|
CCAGGCCCACGTGCCTTCACCTAGCGGGAGACCACCCAGCTGTCAGGGGGCCAGGTCCAGGCTGCCAGAGCTACAACCCAGGCAGGGTGGCCAGGGACACAGAGTGCCATCCCCACCAGACCCCAAGCAGGAGCAGCAGGGCGAGACTTAGGCCATCACAGCCTGCTCTTTACCCTGTCTGGGTGGAAGTCCTGGGGCGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAGNN
|
pathogenic
| 342,052 |
Mutation found at chromosome X position 154366598, gene FLNA (filamin A): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Periventricular_nodular_heterotopia']
|
CGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAGGGGTCCGCCACACACCTCAGGGGCCTATGGGGAACCAGGAGGAGGAGGCTGACTCCAGCTGGCCCAGAATCCAGGGCCCATGACCTGGAGTGGGGCTGGGGCTGAGGAAGAGGAAGGTGGGTGGCCCTGGGTGGTTGGGAAATACAACTGTTGTTCCAGGGTGGGTGGGGTGAGGCAGGGGAAGTGGGGGAGTTGGG
|
CGCGTCACGGATGTCAGCCATGAAGGGGCTGAGGCGGATGTCTTCGCTGTTGCACAGCACGTGAACGGCATACTCGCCAGCCTCCTGCGGCCAGTAGCGCACATCACAGGAGCCGTCGCCCTTGTCGTCACATTCGATCTTAGCCTGCGATGGCCCTTCCACCGAGAAGCCTGACAACAGCCACCAGTCCCCTCAGTGCCCTGGAGCCTCAGGGTGGGCCGTCCTTGCCATCGTCTGTCCCCAGGTGCCCATGCTGCAGCCTCCAACTTACCCAGCGTGCCCACGTCGTCCCCGATAGCCTCCACCACAAAGTCTGCTGACTTGCCAACGACGCCGCCCTCCAGCCCAGGGCCCCAGGCCCGTACCTTCTGATTGCCACACTCGGTGCCCACCTTCACTTCGAAGGGACTGCAAATGCGAGAGCCACACAGGGAACACCGAGGATCACCACATGAGCCAGCGTGGGCCCCACTGTGGCGGCCAGGCAGGAAGAGCCCATGTGGCCCCTCATCATCAGGTGGGGAGGCAGAAGGAAGAGAAGAGGCAGAGTGTGCAGAGCTGGGAGAGGGATGCCTGGGGGCCTCACCTGCGCCCGATGTTCTGACCACCCCACGTGATGGTGACGATATAGGTTCCAGGGACCATGGGGTAATACTCGAAGCCATACACGCCATCCCCCAGGTCCTTCTGCTTCACGCGCTCCTCTCCCTCTGCCAAGACAAGGAGGGCCTCAGGCCTGCCCAGCAGTGAACCCGGGGGCTGCCGCCACCCATCCTGGCCTGGCTCCAGGCCAACTTACTGGGGCCCTTCACGGTGACCTTCAGCTCCCCACTGCCAGCGCCCTTTGTGTACACCTTGAAGTCAGCTGTCTCCTTCACCCGCACACCCTTGGGCTGGAGGCCCCGGCCAACCGCCCGGCAGGCACTCGGGTTACAGGCTGCAGGCAGAGGGGCCAGCTGAGCACCAGCAGCTCGGCTGGGCGACCCCTCCCTTGCCTCCCACAGGGCCGGGCTGTCAGGATTGGTGGGTCCCTCAGAGCTTGGCTGGAGGGGGACATGCAAGACAGAACTGGAAGGGACTGTGACCCCAGGAACTGTGGCCTGGGCCAGGACATGGCAGGCCTCCTCCCACCTGCTCCACACCAGCCCAGAGCCCCCCACCCTCCCCCTTCCAAGAAGAAGACAGATCCAAGTACCGTTGACCCTGTGGGCAGAGCAGAGAGCAGCAGGTTTCTAGACAGCTGGAGCGAGCTCTTCCGAAGGTGAAAGCGTGAGGAGAGAGATGGAGAGGGGCGAGGAGAGGAGAGGAGGAAGGGCCCCAGCAGGGGAGGAAAAACAGCATGTGCCCAGACAGTAGAAGCTCAAAGAGTAGGGGCCCCGGGGCGGGCTGCAGCGGGACTGGCCCAGGGGGTCCCCCTCCTGTGGGAGGCCCAGACTGCAGTGCCACAGCAGAGGGCAGTCAGGGCCGGGCCTACCTTGGCCAACAGTGACAGTGTAGGGGCTGCGAGGGATGGGCACGCCGGCAAACGTGACGTGCACGGTGTGGACGCCCTCCATGGTGGGCTGGTAGCTGCAGCGGTATGTGCTGTCGCCCCGGGCCTCCAGCTGAGGCTCTACCGTGCCCTTCTGTCCCATGGGGTCCTGGATCACAACCTCGACCTCGCCCGTGCCAGCTCCTGCCACGAGGCACCTGCTCAGCTCCCAGGCCCCAGTGCGGCTCTCCCCACAGACCAGCTGGGCCTTGGCAGCCTCCCCTCACCTGCCGTAAAGATCTCAAAGTAGGTGGTCTTGTTGGCGATGTTGCCACTGGGCTCCAGGCCGGGACCTTGGGCTGTCACTTTGCTGGCGTCACCCTGTGACTTATCCACGTACACCTCGAAGGGGCTCTTGGCGATGTGCTGGCCAGCAAAGAGCACAGTAACCTGTCCCCAGAAGGGTGGGCCGTGAGGGTAGGGCTGGGGGCCTCCAGCCACTGCCTGAGGTCACAAGCCTCCCCCCTGGCCAAGGGCTCACCTTATGAGTCCCCGTCACCTCGGGGACGTACCAGACGGAAGGTGCGGTTCTTGTCGTTATTGGCGGTCACTTTTGCCTGCAGTGGGAAGGAGCCTGTGAGCCTTTGCTAAGAGCAGCCCCACTGAAAGGGAGCGCTGCGGGGCCTCTGCTGCCAGCAGCTGGCCCTACCTCCTCCTGGTGTCCGGCCGGGTCCTCCACGTACACCAGCACCTCTCCCTGGCCAGCACTTCTGGTCTCCACAGTGAACTCTGCCCGCTTCTTCACCATGTTGCCTGTGGGCTCGATGCCTGGCAGGGGAAGGCGAGCCAACCACGGGCCAGCTGTTAAGGCCACAGCCTCACCCCTCCACCCTTCAGCCCTCCCTGCTGGCCCCTAAGTCAGGCACATTCCAAACTGGGCAAGTTCATTCAGTGTGAGCTGTGGCACAGAGCCTGGCCTCGGGACCCAGCTGTGCTCTCGCTGCTGGGACAGGCCCAGCCTGTTTTCTGGAACATTCATTCTCACCGCACTGGGCCCTTGTTCCTGTGTGAGCCTTGACTGGGTTTTAGGTCCCTGTTACTGAGACCTGGTTCATCTCCATTTATAATAAAGACCGCTGGATGCTACCTCCCCGAGGACCCCACGCAGCAGGCTTCTGTGACTGGAGGAACCTATTAGCATTCTCTTGTCGTTTTCACTAGTCCCAAAAACCCACTCTTGTCTGACTCTTGGGTGGCTTGATCACCTAGCCGCCATGTAACCCAAGACCCCTGGGGACCGCCACGTTTAGATGGGACACTGTCTTATGGGGAAGACGTTGGCACACGGGTGCACCCCTGGTGGGGCTCCCTCACCTGGCCCGTAGGCACGGGCTTTCTTCGGGTTCAGTTTGGGCCGCAAGGGAGCCCCTGGCTTCAGCTTGGCCTTGGGGAACTGGGACAGGTAGGTCATGACAGAGTGCTCGTCCACGTTGGGGTCCACAATCTCCTCGGGGGTGATCACCTGTCACAGGCAGAAAACAGGAGCCATCGGGCCTCCGAGTCTCTCCCAACTGCCGATCCGGTCCCCTACAGCTGTAGCCAGGCCGGGCGGGTGTACCTGGGGGATGCCCAGCCAGTCATCCGCCTGCTGCATGGCCTCTCGCGCATTGGTAACGGGCTTGCTGGCGTCCCAAGAGTCCCAGTCAGGACACAGGCCTGTGGCGCAAGGGAGGCTGTGAGTCTGGGGGCCGCAGAACCCCCTCAAGGGCCACCCATGGGTGACCCCAGCCCAGTCTCTCCTGCCTCTGCGCCCCCTCACCCGGGGCACAGCTGTCCACCAGGGCGCCCAGGGCCCGGCCGCTCTGCCAGTCCCGGCTGAAGTTGGTGATGGGCAGCTGCGGCAGCTTGTTCTGGATCCAGCCCAGGAGCCTCTGCTTGGGGGTCTGCTTCTTGGCCTCCTCATCCTCCTCCTCGTCCCACATGGGCATGGAGATGGAGTAGTGCAGGATCAGGGTCCAGATGAGGCCCAGGATCAGCTTCAGGTTCCCGTCCACGATGGCCTTGCTGTCTGTGAGTAGAAGAGTGGCCACGCTGGGCACACGGCTGTGCGGGAGGGGCCGATCCCAGGCTTTGGGGTCAGGGTCTGGCAGCACGGGGTAGCAGGGGCCAAGGAGGAGGTAGACACCCCCTCTTGGCCAGTGGTAGGATGTGGATGAGGCCCTCTCTGCCCAGGGTCCCAGGGGGTGTTCAGAGGTGAAGGAGACTTTGGGGTGAGGGCAGATACACACAGACACACACACACGATGCCAGCAGGGTATGATTACTGCCAGAAGCCCTGGGCCCAGAGGAAGGGCAGAGGGCAGACCCAGCCTGCAGATGGGCAGCTCTGGAGAACAGCTGGACAGTGTCCACAGCTGCCAGAGCAGGGGTCCGCCACACACCTCAGGGGCCTATGGGGAACCAGGAGGAGGAGGCTGACTCCAGCTGGCCCAGAATCCAGGGCCCATGACCTGGAGTGGGGCTGGGGCTGAGGAAGAGGAAGGTGGGTGGCCCTGGGTGGTTGGGAAATACAACTGTTGTTCCAGGGTGGGTGGGGTGAGGCAGGGGAAGTGGGGGAGTTGGGNN
|
pathogenic
| 342,067 |
Variant on chromosome X, at position 154371181, affecting FLNA (filamin A): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAATTCC
|
CATGGCAGCTGCTTCCCAGCCCAGCAGGCAGCACCTGGAGGGCCAGGTGAGCCGCTCAGAGTGGCCTCCCCAGTTCCCAGGTTGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAAT
|
benign
| 342,145 |
Classify the chromosome X variant at position 154371263 affecting gene FLNA (filamin A) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
TGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAATTCCATCAATAATTGACTCTCTCTCCACTAAGGGCCATTGAGCTGGGTTGTCTGGGTTCATTCCTTAATCTTCAGAGCTCAGGGAA
|
TGGTCCTGGCCCCACGAGGCTGCCTTTCACTCTCCCCAAATGGCAGCAGGGAGGGGGACTCGGAGAGGACCAAGGGTGCAGGGCCAGGGAACAAGGCCAGCCAGGGCTTCCCATCAGGCCCCCACCCCAGTCCAGCCTCAGACCCCTCAACGACCCCCACACGGGGAGCAACCAGGCCCACCAGGTCCATGTTAGGCCAGCCTACTCCGTCCCCATCCCCCTCCCAAAAGAGAGAGGGAAGGACCAGGGCCCAGGGCTGGGAGACTGTCTGGCTGGATGGCCCCGCCCCATCCCACCCCCCTTTCCCCAGCCCCTGGGCCAGCCAACCCCTCCCTCCCCTAATCACTGCTGCTTTCCAACATTTTTTTGCCTTATATGGCAAAGCTCTGGGAACTAGGCCTGCTCCAGCCAGCTCACAAGGAGGAGGGGAGCTGGGAGGAGGGAGGAGACCCCCCCTAAAGAGCTGGGGTGTGGCCCGCCTCCCCACATCCGGTCGCCCCCCCTACCATCCAGGACTGAGATGACTCAGCTTGGCTAGACTGAGGCTGGGACTTGTGGGGGTGGGCCTGCCCCTCGCCTCAACTGGCATTCCAAAGAAAGAACTTTGGTTCTTGGGATCTGCCCTCTGAGTGGCTGGGGGAACCCAAGTCTTGGTCCCTCACTTTCTTGGGTTCAGCAAGGGCCATTCCAGGGCTGCAGGGTAACTGGAAGGCCTCTCAATTCTGAAGAAGAGAAGACTCATCATCCCTCTCCTCTCCCTGTTCCACATCACCCCCGAGTCACCCATTCTGGGGCCTGCCCTCTCATGCAGCCCCTATCTTGAGAACGAATTGGGCTGCTGCAGCAGGCCTGGTCAATGCCAGCCTCTCCAGTCCAGTGACACAGACACTGGGCTGGCACAATGCACGCTGGAGCATCTACCAACCAACTCCTGCGTGCTACACGCAGAAAAGCAAGGCCTACATGGAAGCAAGAGTTTGGCCCAAGATGAAGAGAAAAGTTGGCGTCCAAGTAGTCTACAAGCCAGGTCTCTCAGTCAACCACGCCCAACTCACCCCGGGTGCAGTTTTGCTAACTATGCTTCTTTCTGGCCCCCAGGTTGCCTGTGTGTGTGTGGGGGGGTAGATCTAAACTGGTGGTTGGAGCCATCTCCGATGGGCGACCCATCCTCCAGGGACACAAAGAGCCCAGAGCCCCAGACAATGGGACGCACGAGCTCCAACCCACACTTCAGAACCAACGGGCCTCTGAAGGCCAGAGGGCCCTCTCTAAACAGCTGTGGGGGGAGAGCCCGGGCCTCCTCCTCCTCGGGGACGGGGCGCAGGGCCAGGAGCCTGCCCAGTGCCCGACCCCCCAGGCCCACTCCCACCGCGAGCACAGCCGCGGAGGCGCGGCCTGCGGAGGATGTGAGTTCAGCCTGGGCGCCGGCCAGCCGGGGCGCAGCGGGCGGGGGCGCGTAGCGGTTCGCACGCCCGGCCGGCCAGCCAGCCAGCCCGCGCGCCTTTGTTCTGCAGGCCCGCGTGGAGCAGAGCAGCCGGAGGCCTCGGGAGTTGCGCTGCGGCCCGGAAGGGGGTGGTTTGGAGGGGTCCGCCCGGGGAGATGGAAGGACGCACGGAGTCCCCGCCCCCGCCCGCCCGGCGCTTCGGGGCGTCCCTCACCGATGGACACCAGTTTGATGCTCTCGCGGTCCAGGAACTCGAGCGCCACCGACACGTTCTCAAGCTGCATTTGGCGGAAAGTGGGCCGCTGGTTGTGCTTGCGGTGCATCTTCTTCTGGCTGAGCACCTCCAACAGCGCGATAAGCCGCAGCCCGTCGCTCAGGTCCGTCTGCAGGTTGGCGATGCGCTTGCTCACGCACTTCAGGTGCTCGTTGCACCAGCGCGTGAAAGTGTTCTGCTGGATCTTCTTCCACGGCGCGTCCTCCGCCAGGTCCTTCTCGGTGGCCGGCATCTCGGCGTCCCGCGTGTCGACGCCGCCGCCCGGAGCCGCGCCTGCTGCGCTCTGGCCCGCCCGAGAGTGGGAGCTACTCATTTTGAGGCGCGAGAAGCCGGGGGGGGCGGTGCTGCAGCCTCGGCGAGGGGACGGCCCTTTAATTAAAGTCGCAGGCACCTAGGCGCGCGGGAGGCGAGGCAGGGAGCAGAGGTTGCGCTGCGGAGAGAGCGAGCCCTTTAAATGCGGGAGGAGGGCGGGGCCAGAGGGCGGGCCTCCTGCGGGGAGGGGCCGTGGGGTGGGGCTTCGAGGGCGCGCCTGCCCCACCCCGCCCCGCCCGTTGGAATGCCCCCACTAGGCCCCCGGGTTCGGCTGATCAGACGCGAAACCCGGGCTCCAGGGTGGGTCGCTGGGCAGTGGGGTGGGCAAGGATGCTCCCAGCCCCGCAGCCTCGCGTTGGCGCTGCAGGAAACGCGCCCTAGAGCGAGGAAAGGCTGAGCAGTGTCTGGCGCGGGACTGCTTGGCCTGCAGCCGGCGCGCCTTACAAGGGACTTTCCTTCCCCAGGGCCCCTGCGGGGGGTGGGGTGGCTCTCTTCCCTAAGTCACTTGGGCTCTGCCCCGTCCCTGCACATCCCTACCCCCCGCCGTCATCCCCCTTCCCCGGGCCCCCAGGGCCTAGGGTTCCCCGGCGGCATCCCCGTCCGCCGGCCCGGCAGCGGCGGGAAGGGGCCAACCCTAAGAGCGAACCCCTGGAGAGCGGCAGCCCCGGACCAGGCACTGCCGAGGGCGCTTTGTGTGCTCATCACCTGGGAAGCGGCTGCAGGGCAAGGCCTGCGCCTACGCGGTCCCCGCAGACCCCCTGCCACGGGCCCGCCTTCCCAGTCCGTAGGGCCCTCGCCCGCGCACCTGTGCCCGCTGCTTCCCACCGCCTCCCTCTCTGCTTCCCTCCACCCGGGAGGATATGGGGCACTGGGCCAGGAGGCCGCCGGCACTCCAGGAGCAAGCAGCCTTCGAAGGGGTCCGGGCATGCCCACGGGCACGCCAGTGGGCGCGGGCAGAGGGCGCCGTGCGATGCATGCAGAGACGTGTGCCCGCCTAACCCTTCATGCCAGTTCACCCGGGGCACTGGGGGGAGCTGAAGCGGGGGGTCCTCTCCTGTCGGAAAGTCCCCTCAGCCCAGCGTGGCCAGGGCAGGGGGCAAACACGGGAGTGGCATTCCAGACCCAGAGGGGCCTGCTCAGAGGTTCCCATAAGACTTGTCAGGCTCTGAGCACCTGGGTCTGGGTGGGCTTCAGGTGTGGTGGCAGGTGCAGAGGAGGCCTGAGGACAGGGATCAGGGGCCTGGGGGGTTGTGTCCCCAGAGCTGTGGGGGCTCTTCACTCAAAATTTTCTGGTAGATAACTCTGGAGATGGTGCAGTGGCTGCTGTGCCGAGATGTAGACTGGGACCAGGGGACGGCTGGGGACGCTCACTGCTACTATCTTCAGTCAGAAGCCAGCCTGCCTATGGCTTCCTCCCCATTGTGCACTCCCCTCCCTCTCAGTCCTCGGTACCTCCCCTCTCCAGAATGTTTCCTCCTCTGAGTGTTTTTTTTTTTTTTCTAGGAAGGCAGGTATCTGTCCCTCCTGTTCAATTCTAGTAATAATTAATTTATCTGCTAAAGACCAGTGAGAGATGGAGGCCCTGGGTTGGCCAGCACGTCATGCCCAAATATGGTTGACTCTCCTGTAGCCCTGGGTGTCTACATGACACGTGGTGGGGCTGTGATCCGCCCAGCACATTCACTTCGGGGCAGCCTGTGGCCCCACTGGTTTTTCCCACTAGTAGTGGTGTTAGGGGGTGCAAATGGCATTTTCCAGTACTGAGGCCAACCCCTGTATATTGTCCCCTCTCCTGACCACTTTGAGACACACCTGCACCAAGTGCGCCTGGGCGTCTGGGAGCTGGGGTGGAGGTGGGAGGGAGGGCTGGGAAGGGGGAACCCATACAGACCCCTCCCTGCACGGGCCCCATTCAAGACGGGCTTGAAGTTGTCCTTCTGGTCCCCCTGCCCCACTGGAAAGCAAGTTCCCAGGCACGGAATTCCATCAATAATTGACTCTCTCTCCACTAAGGGCCATTGAGCTGGGTTGTCTGGGTTCATTCCTTAATCTTCAGAGCTCAGGGA
|
benign
| 342,154 |
Is the genetic mutation found on chromosome X at position 154379314, within the gene EMD (emerin), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GGATCTTTGCGTGTAGTCAAAACAGGGCCCCATCTCCTCATTACTCCCCCAGGTGTCTACCTCTTCCCACCCCATGGGCAAACCTCCATGGATGACTGGTCTGTGACCCTCACCAGCCAGGCCAGCCATTCTGGACATGACCAGAGCCCTCCCCTCTTCTTCCCTTGTCACCAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTG
|
GGATCTTTGCGTGTAGTCAAAACAGGGCCCCATCTCCTCATTACTCCCCCAGGTGTCTACCTCTTCCCACCCCATGGGCAAACCTCCATGGATGACTGGTCTGTGACCCTCACCAGCCAGGCCAGCCATTCTGGACATGACCAGAGCCCTCCCCTCTTCTTCCCTTGTCACCAGCCCTCAACTGTGAAACTACAGATGGCATGTCACCTCTTCATGCTCCCAGTTTGGGGCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 342,157 |
Regarding the variant found on chromosome X at position 154379543 in gene EMD (emerin): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy']
|
GCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCC
|
GCCTACCCAGTGAGGGGCACACTAGTTGATTCCATACACCCTCAGCTGGCTTTGTTTAGAATGTGAATGTCACAGCCAGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGACTGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAAATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCN
|
pathogenic
| 342,163 |
Mutation at chromosome X, position 154379720, within EMD (emerin): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy']
|
AAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAA
|
AAATCCTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAANNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 342,167 |
Is the genetic variant on chromosome X, position 154379725, gene EMD (emerin), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy']
|
CTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCAC
|
CTGTTTCTACTAAAAATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 342,169 |
Does the genetic variant at chromosome X, position 154379740, impacting gene EMD (emerin), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Emery-Dreifuss_muscular_dystrophy', 'X-linked_Emery-Dreifuss_muscular_dystrophy']
|
ATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCA
|
ATACAAATACTAAATACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGC
|
pathogenic
| 342,171 |
Chromosome X, position 154379754, gene EMD (emerin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Cardiovascular_phenotype', 'X-linked_Emery-Dreifuss_muscular_dystrophy']
|
TACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACG
|
TACTAAAAATACAAAGCCAGGCATGGTGGCATGTGACTGTACTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGAGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGAATGATGAATGTCACCTCCTTTCTCTTCTCCATGAGACAGCCAATATCTGATCAAGGCCCTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCAC
|
pathogenic
| 342,172 |
For chromosome X, position 154380001, gene EMD (emerin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['EMD-related_disorder', 'Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy']
|
CTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATA
|
CTGGGAATGGGAATCCATAGCTCGCCACCCACGTCTGCCCCCTGCCTAGCCACGCTGCGCTCAGGGACCATTCCGACAGGAGAGGACGCCCCACTTCAGCTCCCCCCAGTGCCCCGGGTGAATGAACGGCATGAAGGGTTAGGCGGGCACACGTCGTCTCTGCACGCATCGCACGGCGCCCTCTGCCCGCGCCCACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATANNNNN
|
pathogenic
| 342,184 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 154380194, gene EMD (emerin): what disease(s) if pathogenic?
|
benign
|
CACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTAT
|
CACTGGCGTGCCCGTCGGCATGCCCGGGCCCCTTCGAAGACTGCTTGCTTCTGGAGTGCCAGCGGCCTCCTGGCCCAGTGCCCCATTTCCTCCCGGGTGGAGCGAGGGAGGAGGAAGGGAAGCAGAGGGGTAGGCGGTGGTAAGCAGCAGGCACATGTGCGCGGGCGAGAGCCCCGCAGACTGGGAAGGCGGGCCCATGGCAGGGGGTCTGCGGGGATCGCGTAGGCGCGGGCCTTGCCCTGCAGCCGCTTCCCGGGCGATGCGCACACAAAGCGCCCTCGGCAGCGCCTGGCCCGGGGCCCGCGCTCTCTTAGGGTCCGGGCCCTTCCCGCCGCTGCTGGGGCGGCCGACCGGGATGCGGCCGGGGAACCCTAGGCTCTGGGGCCCTGGGAAGGGGGACGACGGCGGGGAGTAGGGATGTGCAGGGATCGGGCGAAGCCCAAGCGACTTAGGGACCAGAGCCACCCCAAGCGCCGACTTCGCCCGCTCGCACGTCCCGGGTCCCTCGCGCGCAGGCCCCGCCCCTCTCACCCCGCCGCACGCCACAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATA
|
benign
| 342,185 |
For chromosome X, position 154380739, gene EMD (emerin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
CAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCAC
|
CAGGGTGACGTCTGGGCTCCCAGCCGCATCGCCCTGACTCCCGCGCGGGCCCCGCCCCCTGCCGCTAGCCAATCTGTGCGTTTGTGACTTTTGGGCCCGCAGCCCCGCCTGCTCCCACAGCGATACCGGTTTGCATTGCCCTGACTCCCGCGCGGGCCCCGCCCCCTACGCCGCTAGCCAATCCATGCATTAGTGGCGTCCGGGCTCGCAGTACCGCTCGCTCCCACCGCGAGACCTTCTGCTCCGCGCCCGCGCGGGCCCCTCCCCCTCCATCGCTAGCCAATCCCCGTTTTGTGACGTATGGGCTCGCGGCCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACNN
|
benign
| 342,205 |
Gene EMD (emerin) variant at chromosome position 154381051 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy']
|
CCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAAT
|
CCCCGCTCGCTCCCACCGCGAGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATN
|
pathogenic
| 342,231 |
Variant in EMD (emerin), chromosome X, position 154381071—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['X-linked_Emery-Dreifuss_muscular_dystrophy']
|
AGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCA
|
AGACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCT
|
pathogenic
| 342,233 |
Variant in EMD (emerin), chromosome X, position 154381072—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Neuromuscular_disease', 'X-linked_Emery-Dreifuss_muscular_dystrophy']
|
GACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCAC
|
GACCTTTTGCTCCGCGCCCGCGCGGGCCCCGCCCCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTT
|
pathogenic
| 342,234 |
Gene EMD (emerin) variant at chromosome position 154381105 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Emery-Dreifuss_muscular_dystrophy_1,_X-linked', 'X-linked_Emery-Dreifuss_muscular_dystrophy']
|
CCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCTCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCACTCACAGTTTCAGCCTTTCTTGTTTCATTGCTAT
|
CCCTCCATCACTAGCCAATCCCCGTGCTTGTGACATATGGGCTTGCGGCCCCGCCCGCTCCCATCGCGAGACCGGTTCCCACCGCCCTGACTCCCGGGCGGGCCCCGCCCTCTCCGCCGCTAGCCAATCCTCGCGTTGATGACGTTTGGGCTCGCGGCCCCAGCCTCCCAGCTCTCAGGGCACGGCCGGTCTGTGCCGGCTGCTCCCGCGGTTAGGTCCCGCCCCGCGCAGCGCGCGCAGCCTGCGGAGCCAGCGGCCGTGACGCGACAACGATTCGGCTGTGACGCGACAACGATTCGGCTGTGACGCGAGCGCGGCCGCTCCCGATGCGCTCGTGCCGCCCCCGCCGTGCTCCTCGGCAGCCGTTGCTCGGCCGGTTTTGGTAGGCCCGGGCCGCCGCCAGGCCTCCGCCTGAGCCCGCACCCGCCATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGCGGCGGCGGGCGGGACCCCTTCCGGGCCCCCTCCTCGTGCTCCGCCTCGCGACCTCCCCGCTGCCCTCCCCGCGCGCCTTCCCCGGCCCGCGGCCCTGACCGCCCCGTGTCCGGCCAGGATCAACTCGTAGGCTTTACGAGAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAGCTCGTCCGCCGCCTCCTCTTATAGCTTCTCTGGTGAGAGCCTCGCCTGTGGGGACAGCCTGGGACGCGGGGAGGATGGGGTCGCGAGGGTGTGGCAGGGGGGCCGGTCGAGAGCGGCACTGGAGAAAGGGGAGGGAAGTCTGGGGGGGCAAACAGTTCTGTCTCCTCCTTTCAATCCAGACTTGAATTCGACTAGAGGGGATGCAGATATGTATGATCTTCCCAAGAAAGAGGACGCTTTACTCTACCAGAGCAAGGGTAAGGCAGGGGTTGGGTGGGCACGCTGGCACCTTCACCCGACTTCGTCAGGGACCCCGCTCACAGGGAGGACCTGAGACCTCAGTCCCAACCACTCCAGCAGCCTTAGGAGGGAGAAACTGTTACAGGTCCCGAAATGGGATTCAGATTAGGGCCATCAGGCCAGGCGGGGCACACCGATGCCCCCTCTGCTACCGCTGCCCCCCTTCCCAAGGCTACAATGACGACTACTATGAAGAGAGCTACTTCACCACCAGGACTTATGGGGAGCCCGAGTCTGCCGGCCCGTCCAGGGCTGTCCGCCAGTCAGTGACTTCATTCCCAGATGCTGACGCTTTCCATCACCAGGTGAGCTGGCTGGCAGGCGTCCTGTACTTGGGTACAACCTAGGGGATCGCGGCTGTGTTTGGATAAATCCAGGGGGGCACTGGGTACAAATGGTGGCTCTTGGGCCTCCGGGGAGACTCTGTGTGACTAGAGCACCCTGGTCTGGGATCTAGGCTCAGACTCTTCCTGAGAGTCCTGGGGGCAAAAGGGGATGCTGGGGCATGAGCACAAGTGGCAAGGCCCCATGGATAAAGGGCTGAACACCCAGAGCCATTCAGGAGGGTGTGGGTTCCTGGCCTCTAACCAAAGGTCAGAGGGGACTGGCTGGGGAAGTTTGGACTGAGGGACATGACAGGGCCATGGTGGCCCTGCCAGCCAGTCCCCTCGCCCTGACTCTCTTCTGCAGGTGCATGATGACGATCTTTTGTCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGGGGAGCCCAGGGACGGGCTGGTTCTGGGTCCAGGCTCCTGGCCCACTTGCTCCCCTCTTTTGCCTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACGCACTACCGCCCTGTTTCAGCCTCCAGGAGCTCCCTGGACCTGTCCTATTATCCTACTTCCTCCTCCACCTCTTTTATGTCCTCCTCATCATCTTCCTCTTCATGGCTCACCCGCCGTGCCATCCGGCCTGAAAACCGTGCTCCTGGGGCTGGGCTGGGCCAGGATCGCCAGGTCCCGCCTGGGGCCAGCTGCTGCTTTTCCTGGTCTTTGTGATCGTCCTCTTCTTCATTTACCACTTCATGCAGGCTGAAGAAGGCAACCCCTTCTAGAGGGAGCCATGAGGGTCTGGGCTTCAGAGCTAGGTCTTTGGGGAAGTCCTGGCTGACTGCCTTAGCAGTGGGGGTGGGGGTGGGGGCAGGGGCAGGGGCTTTATGTGTTTTTGCTTGGGGGGCGCTGGGCCTAGCCCAGAGTAGTGCTTGCTCCCCCTGCCTTGTCCCACCAGGGAGGCAGCAGACTCAGGCCCTCCATGGTCCTCTTTGTCATTTTGTTGACATGCATTCCTCCTTTTGTCATCTTGTTGGGGGGAGGGGATTAACCAAAGGCCACCCTGACTTTGTTTTTGTGGACACACAATAAAAGCCCCGTTTATTTGTAATGCGTTGGCTCTTCCTGGAGGAGAGGGTTGGGCTCCCATGGCAAGGGCCTCTGCGTCTTGGGGCTCCAGGATTGCAATCCGGCTTTGTTGGGTCCGCATTTTTGCTTTAGTCTGGGGATAGGAATCAAATGTTACCCAGAGATGTTTGTGTTTTGTTTGGGAGTTTTATTCCCTAACTCATTCCCCAAAGCACGTGTAACTGCTTATACATATAATCGTGGTACAACAAGGTATATACAGAGAACCCACTTGGAAATTCAGGCAAAGCTGCATGCACGCTACCAGCAGTCTGCGGGTGTTTTAACTGGAAAAAGCTGAAGTCCACCTCGGTGTCCAATGGCATGGGGATGGAAAGAAAATGAGGCGTCTCTGGCACATCATTCTCAGCTCCTGGAACTGCTGCTTGTTTAACATGGGAGAAAAGCTCCAAAGGCTGAAATGCCCCATCATCCCTGGGTGATTGAATTCACCTGCCTATATTCTCACTTAGCTCCCAGGTTTTCTGCCCTGGGTATGTATTTCATAATCTTCAAAGTATATATATATATAATTTTTTTTTTTGAGACGGAGTCATGCTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCTAGTAGCTGGGACTACAGTCGCGCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTATTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCTGGGATTACAAGTATGAGCCACCGTGCCCAGCCGAAGTTTACTATATATATTATATATTTATTTATTTTTTTGAGATGCAGTCTCACTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCATCGCAACCTCTGCCTCCTGAGTCCAAGCGATTCCCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCACCGTGCACGGCTATTGCTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCGTGCCCAGTCTACATATATGTTTTTAAGTGGAAAGTGGGTACTAAAACCCAAGACAATGCCACGTGTTGCTGTGCATGCCTGGCTCTATGCTGCTGGCAGAGGGCGGGAGAGCACAGAGGGGCTGCCGTCCACTGCACACGGGCAGGTGGGAAGCAGAGGCCCAGCAAGGGGTGGGGTGCTGGCATTAGTCACCCAAGCCTTTGGCTCCTTGCTGCAGGTAGTGGGACAGCCCAGCCTCCCACACTTGGCACAGCTCCCATGTAGTGCCTGCACATGCATTTGTGGAGGCAGGGCTGGGGCTGGGACCCTCCCTGGCTACTCCTGACCATTTATCTTGGCTGCATCCTCGTCTCTCCTCACGTATATTTTTGGTCCTAAAATAGTACATGGTCCTTGTGTGTTGCAAACATGCAGAAAAGAGTGAATCACTTCTAATTTTCTTACCACTCACAGTTTCAGCCTTTCTTGTTTCATTGCTATN
|
pathogenic
| 342,236 |
Variant on chromosome X, at position 154412119, affecting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['3-Methylglutaconic_aciduria_type_2', 'Cardiovascular_phenotype']
|
CTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGATCTCGTCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAATAAAAATAAATAAAAATAAAAATAAAAAACTGCCGGGTGCGGTGGCCCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTGCCTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGCGACCTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGTCTGGCGACAGAGCGAGACTCCTAAAAAAATAATAATAAATAAATAAATATAAAATAAAAATAAAAAACTGGCTGCTTAATGCATAGGGGGCTTTCTTTCCGGGTCATGAATATGTTTCAGAACTAGAGGTAGTAGCTGACATTGTGACTGTATCAGATGGTATAAAATACTGTTTCTTGTATTACATATGATACACAATATGTTTGTATATATTGCTGTATATATTGTATATTTTGCCATACAGTAGATTATACATTGCTACATACACATAGTATCATGTAGTACTGTAACTATGTCAAATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAG
|
CTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCGCACTCCAGCCCGGGCGACAGTGCGAGACTCCATCTCAAAAAAAAAAATCAATAAATTATGGTTTAAAAATAAAAAACAGGCCAGGTAGGATGACTCACACTTTGGGAGGAGAGGCAGACAGATCACCTGAGGCCGGGAGTTCGAGACCAGCTTGACCAACATGAAGAAACCCAGCCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCTGAGATCTCGTCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAATAAAAATAAATAAAAATAAAAATAAAAAACTGCCGGGTGCGGTGGCCCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTGCCTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGCGACCTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGTCTGGCGACAGAGCGAGACTCCTAAAAAAATAATAATAAATAAATAAATATAAAATAAAAATAAAAAACTGGCTGCTTAATGCATAGGGGGCTTTCTTTCCGGGTCATGAATATGTTTCAGAACTAGAGGTAGTAGCTGACATTGTGACTGTATCAGATGGTATAAAATACTGTTTCTTGTATTACATATGATACACAATATGTTTGTATATATTGCTGTATATATTGTATATTTTGCCATACAGTAGATTATACATTGCTACATACACATAGTATCATGTAGTACTGTAACTATGTCAAATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAGN
|
pathogenic
| 342,257 |
Variant on chromosome X, at position 154413199, affecting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
ATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAGGTGCTGGAAAAAGAAGAGAGAAAGGTAAGCCAGGCATAGCGGTTCACACTTGTCATCCCAGCACTTTGTGAGGTCGAGGTGAGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTAAGACCCTGTCTCTTTAAAAATAAAAATATTTTAAACAAAAGAAAGGTAGAAAATATGAGTTGTATGTAGAATATGAAGGTTCTAGAATAATCCTATTAAGAATTTTGGATTCTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGTGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTGCCGGCCACGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAATTCGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCTCAGCTACTTGGGAGACTGAGACGGGAGCATTGCTTGAACCCGGGAGGTGGAGGTTGTGGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTGGAAAAAAAAAAAAAAAAAAAGAATTTTGAATTAGCTGGCTGCATTGGTGCATGCCTACAGTCCCAGCTCCTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCTCGATTTTCTTTTTCCTTGAGACAATGTCTGTTTCTGTTGTCCAGGCTGGAGTGCCGTGGCGTGATGATGGCTCACTGCAGCTTCTGTTTCCTGGGTTCAAGGGATCCTGTCACCTCAGCCTCCTGAGCAGCTGGGACTAAGGAGTGTGCCCA
|
ATTGTATATGTGGCTGGGCGGGGTGGCTCACGGCTGTCATCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGAGTGTGATGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGTCTGGGAGATCGAGGCTGCAGTGAGCCATGATCCCATCACTGCACTCCAGCCTGGGTCTGGCTGGACCCTGTGTCAAACAAAAAACAGAAACACTAGAGAGACAAAAGGCGAGCGCAGGAGGCTGCCAGGAAGCGGGAGCCCCACGGGGTGACGGCCACTTCCCGCCGCCCCGGGGCTGGCCTCGCTGCCGTCAAGCGGCCCGTGCGCGCTTTGCGACAGTCGGTCGGGCTGGGCACCGGCGCAGGTTCGCTTTCCGGCGGTTGCACCGGGCCGGGGTGCCAGCGCCCGCCTTCCCGTTTCCTCCCGTTCCGCAGCGCGCCCACGGCCTGTGACCCCGGCGACCGCTCCCCAGTGACGAGAGAGCGGGGCCGGGCGCTGCTCCGGCCTGACCTGCGAAGGGACCTCGGTCCAGTCCCCTGTTGCGCCGCGCCCCCGTCCGTCCGTGCGCGGGCCAGTCAGGGGCCAGTGTCTCGAGCGGTCGAGGTCGCAGACCTAGAGGCGCCCCACAGGCCGGCCCGGGGCGCTGGGAGCGCCGGCCGCGGGCCGGGTGGGGATGCCTCTGCACGTGAAGTGGCCGTTCCCCGCGGTGCCGCCGCTCACCTGGACCCTGGCCAGCAGCGTCGTCATGGGCTTGGTGGGCACCTACAGCTGCTTCTGGACCAGTGAGTGGGCCCAGGCCGAGGCAGGCCCGCCCGGGTACCCATGCCCGGCCGGAGGTGGGACTTAGGGTGGGGGACGCCGCGGCCCCGACCTAGCGGGCGAGCCCGGAGCGCCTGACTTCTCCTTCCCCGCCAGAGTACATGAACCACCTGACCGTGCACAACAGGGAGGTGCTGTACGAGCTCATCGAGAAGCGAGGCCCGGCCACGCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCTCTGGGGTACCCGGGCCAGTGTGCTGGGCAGGGGGAGGAAAGGCGAGGATTCGGGACGGGCCCAGCCTCGTCAGAACAAACCCCTTCTCGCTGCCTTTTCATGGAGCCCTGGCACTCCGGTTTCCGGGCGTTCTGCCCCAGGGCTGAGACTTGGATTTGTGGCTCCTGCAGCATCCCTGAGGGAGCATGATTTGGAGAGGGCCTTGGGCATGGAGCAGGACCAAGGAACGGCCACAGGGCATATCTTACAGCTCCTTTAACGTCAGGCCTCCAGAACCCTCTGTTCTCTAAACCATCCAGGGCCCCACAGTCTTGGGAAAAATTTGGGGGTTGGACATAGGATATCCTGTGAGGAAGTTCTGGGCCAGGGACTGGAAGCCCAGTGTCCTGGCTTCAGGTTTGCCCCTGGCTGGGCGTGTACCGTTCAGCCCTATTTGGGAGCCTGGTTGCCACACCTAGAGGTTCCTGCTCTGCTGACTTCACAGGAAGTTGCTTGGCTCTGGTAACCAGATGGCCGGGTGGAGGGGTGCCTGGGGCTTCCACTCCTGAACAGAGAGCTTAACTGTCCTAGAGTTCATGGGGAGCCACCTAGCCACACTGGAGCCCTTCAGAGCTCACCCTGGCTGCTGGGTGGAGAAAGGCCTATAGATGTCACAGGTGGATCCTGGGAGGCCAGGAAGGAGGACTTGGAGCCATCCACTAGCCTAGACTGGGCTGGTTGCAGTGACAGTACAGGGAGAAGTATAGAAGAATGGGCATTGTCCAAGTATGTTGGGGAGGTAGGCAGTCCAGGTGCAGTGATTAGTAAGATGTGGAGGGTGGGGGAGAGGGAGGAGCCAGGGAGAACTGAATGATCTGGCCTAAGGGTCTGAAAGATGCCACTTTGGGCTGTAGGGAAATGGTAGTGCTGCTGTCCCTCATTCCCTGAGATGGGGTGAAGGAAGGGCACTCCCTGGGGATATGGGAAGTTGGGGCATGAAGCCTTTCCTGTCTCTAGGGATCCTGAAACTCCGCCACATCTGGAACCTGAAGTTGATGCGTTGGTGAGGAGGAATGGGCCCCTCGAAGTGGGCCGGGCCGGCCCCACCTGCCTCTGCCCAGATTTGCCCTCCTCCTGCTCTGCCCAGGAGGTGGCGTCCAGCAGTCCAGGCAGGGCATGGGGTGGGGCCCCGCAGGCCCTCCCCTGTGCCTCCCTTCTGCATGCTGATGCTGGGGGCAGGGTGGTGGAGCGGGGTGCAGGGGGCAGGACTAATTGCATCTGTCCCTGCTTAGGACCCCTGCAGCTGCAGACATCTGCTTCACCAAGGAGCTACACTCCCACTTCTTCAGCTTGGGCAAGTGTGTGCCTGTGTGCCGAGGTGAGCTGCTCCTCCAGCGAGTGCAGGGAGGCACTTCTGGGGCAGGAAAGCTGGTGGCCAGTGTCTCTGTTTTGGAGGGACCTATGGGGGTAGGCATCCCGGGAGCCAACATGAGGCCCAGCTCCATCACATGCCAGCAGAGGGGACAGAGGCTGTGGGAGGAGGGATGGGTCCTTGGAAAGTCCTCAACTCTCTGCAACTGCCCAGGGATCCTGTGGACCTGGAGCCTTGGCATTAGAATTCAAGGAGGCATTATCCATAACCCCTTCTCTCAGGGATGTCACTAAGAGACTCATTGAGAACAGTGCGTTGTCATTGGTCCATGGTGGCAGTAGCATGTACCTGCAGGCCAGAGGGTTTTGCTTCTAGGAGAACAAACAGGCTTGTGGGGTGAGAACCCCAGGGGATAGGGGCCATTTTGATCCCTATTCTCCAGACAGGGAGGATCACAGAGATTAAGCTGCTGGCCCAAGGTCATGGGGTAGGAGGTGGCAAAGCCAGGATTTGAATCCAGATTGCTCCTTCCTCTGCAGGAGCAGAATTTTTCCAAGCAGAGAATGAGGGGAAAGGTGTTCTAGACACAGGCAGGCACATGCCAGGTGCTGGAAAAAGAAGAGAGAAAGGTAAGCCAGGCATAGCGGTTCACACTTGTCATCCCAGCACTTTGTGAGGTCGAGGTGAGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTAAGACCCTGTCTCTTTAAAAATAAAAATATTTTAAACAAAAGAAAGGTAGAAAATATGAGTTGTATGTAGAATATGAAGGTTCTAGAATAATCCTATTAAGAATTTTGGATTCTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGTGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGTGCCGGCCACGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAATTCGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTGTGCCTGTAATCTCAGCTACTTGGGAGACTGAGACGGGAGCATTGCTTGAACCCGGGAGGTGGAGGTTGTGGTGAGCTGAGATCCTGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTGGAAAAAAAAAAAAAAAAAAAGAATTTTGAATTAGCTGGCTGCATTGGTGCATGCCTACAGTCCCAGCTCCTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCTCGATTTTCTTTTTCCTTGAGACAATGTCTGTTTCTGTTGTCCAGGCTGGAGTGCCGTGGCGTGATGATGGCTCACTGCAGCTTCTGTTTCCTGGGTTCAAGGGATCCTGTCACCTCAGCCTCCTGAGCAGCTGGGACTAAGGAGTGTGCCCAN
|
benign
| 342,267 |
Clinical classification of chromosome X, position 154419595, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['3-Methylglutaconic_aciduria_type_2']
|
AGGAGGGGTTTATTATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTGCCTCTTTAGTTCCTTCAGCAAAGAACTAATAATATGTCATTAAGGCAAAGGCAGTATTTGGCACACTTGGCTTCTGTGTTCCAAAAAATTCCCTTTTTCTCCAAGCGTAGATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCT
|
AGGAGGGGTTTATTATTTCTAGCTGGTCAAAGTAGAATGTGGTAAAACCCAATAAAGTAACAGCAAATAACAAAGAGGGGCTTTTAATGGAAAGCTGCAGTGCCTGCCCCTCACCTCCCTAGCCCCACTCCTCAGAAGCAGCCCCCTGGAGCGGTTTCTCTTTCTGCTGCTTTTGGAGGCTACTTCTGTCTCTGTAAAGGAACTTCTGTCTCTGTAAAGGAACAAGCAGAGGCCACAGTGTCTTGGCAAATGACCGTGGCATTGTTTATCCCAACCTGCTCTGAGAGATGGGGACTCTGCTGATTCACCCCTCGTCCCTGCCTCTTTAGTTCCTTCAGCAAAGAACTAATAATATGTCATTAAGGCAAAGGCAGTATTTGGCACACTTGGCTTCTGTGTTCCAAAAAATTCCCTTTTTCTCCAAGCGTAGATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTN
|
pathogenic
| 342,284 |
Assess the variant on chromosome X, position 154420024, impacting TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
benign
|
GATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAG
|
GATTTTAATATGGTATTTAAGTATCAAAGTGATTTGACACAAGTGACACAAGTGAGCAGTAGTAGCATTTGCAAAAGCTACAAATGATGAAGTCTTGCTCCAAAAGCATATTATTATTATTTTTTAAATTCCAGTTTCAAGCTCAATGGATAGGTTGCGTCAGTGGGTTTTAGTAGAGAAGGGGCCAGTACCTATGAAGACTCCCCTGTACTATTACACATGCTGCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGN
|
benign
| 342,292 |
Is chromosome X, position 154420248, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['3-Methylglutaconic_aciduria_type_2', 'Cardiomyopathy']
|
GCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCA
|
GCGTCCCAAGTAGGGAAACTCCAGTGGGTCATCACCCCCTCCCTCTAGCCCAAGTGGGCTGCTGGGTCAGGGCACTGTTTGGGTTGGGTTGAGATTCCTGGATCCCTAACTAGCACCTTCCAAAGAATCGGCCTTGCAGAGAACAAAGTTCATTGCCAAAGGTATTCCCAATGTCTGTCTCTCGCTCTGTGATAGGGCTTCTTTACTCCCCACTTTATAAGATGAGGATATCTGCTATACCCCATTCCTTCAACCTCTCCACCTCTTTCCTCTTTTGTCTGCCATGTGATTACTTTTCCATCACCAAGGTTGATGAGATCCTTACTGTGTACTTACTGTCTCCAAGCATCCCCAGGCTTCCAGCCAGCACGCAGCAGCCAACATTGGCTTCAGAAGGAAGGAGGTTTGCATTTCCTTCTCTTGGGTCCAGTGCCATGGTCTCAGGGTTATCTCCAATGTGGAAAGTTGCTAGACCAGGAGCAGTTTGACTCCACTGTTTTTCAGTCTAGCAAGTTTGAGTTTTTCCCAAGCTCTTGATGTGTGTTCAAATGAATGTTCTCCCTTTCCCAAGAGACCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCAN
|
pathogenic
| 342,306 |
Is chromosome X, position 154420822, gene TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
CCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCAGCAGTGTTGGTGCCTAATTATTTCAAAATAAAAGGTTTTTAAAAAAATGACCAAAAAGGGAAAAAAATTACCTGGGAAAAAACAAACACTTGTAATTAAATATAGATAGAAGCAGCTGGGCACCATGGCTCACGCCTGTAATCCCAACACTTTAGGAAGCCAAGGTGGGCGGATCATTTGAAGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGGCCAGTCGCAGTGGCTCACACCTGTAATCCCAACACTTTAGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTGAAAATACAAAATTAGCAGGGCATGGTAGCGCATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGAAACAGCAGCGAAACTCCGTCTCAAAAAAAGAAAAAAAAAAGGCTGGGCCTGGTGGCTCACACCTG
|
CCTCCCTATAAGGGAGGGTCTAGTTTCCCGGGGTGCCCTGAGAAGAAGGGGTCAGCAGGGGGGAGGAATGGTGGAGGCTGAGGCCTCAGGCAGGTGCCCTGTGAGGAGTGGCTGTGACAAGCGGCTGAGATCCCAGCAAAGGGTTGTTGCCCAGAATCTGGGGCCTAAGCGAGGTTGGAAATCACAAATGCACTTGGTTTCTCTAGCAGCTGGCACATAGTAGGATCAGCCCAGGAGTGGCACCTTCAAAGAGAAAGGAACGCATGAGGCTCCGAGAGCGGTCGGCTGGCAGCCAGGGCCTGGCTGGGGAGGGAGGGCAGGTGGTGCGCTGACCTGGGGATCTTTGAGAGTGTGCAGGAGTATGTGGCTGAAGCGGCCCAGCTGGTGAGCCACTGAAGATGGGGGTCATAGGTAGATGGAGGAATTGCCAGGTCAGAATCTCGGTAGGAGATGACTTGAGCTGATGCTGCCTGGCACATAGGGGTTTAGAAGATATTAGGAAGGAAGCCCCACAGCGTGCCCAAGTGCCATGCAGGCCCTGGAGACGGTCATTGGAGGGCGTCTGTGGATGGCGCAGTGGGGGATGGGAAGTCCCTAATCTGCTGGGGCTTTCCCAGCAAGCAGGGACTGAGGGGGATAGTCCCCAACACATGGGCCCCAGGGAGAAGGGCCTGTTTCATTGAGGTTTGGAGAGTGTTGAGGGTAAGCTAACCTGTCACCCCACGCCCCCGAGAATGGTTACTGATAGGGAGAGGCCTTTTCCTTGCAGGAGATGGCGTCTACCAGAAGGGGATGGACTTCATTTTGGAGAAGCTCAACCATGGGGACTGGGTGCATATCTTCCCAGAAGGTCAGCAGGGCTGACTGGGTCGAGCCCCCCCAGTATGAGCGGGATGGGCTCCCAAGCCTCGCCTCTGTGCTCTCTCACCAGGGAAAGTGAACATGAGTTCCGAATTCCTGCGTTTCAAGTGGGGTAAGGGCTGCTGGTCTCTGGCCACAGCCATCCTCCCGGCCCAGAGATGGCCCTGTGGGCCCCTGGCTCCCGCCCCCTCGGGCTGGCTTGTATGGGGGTAGATGGGCGTGTTTGTAGCGCCAGGAAGGGGACAGGTGCTGAGACTAGGCCTGCCTCTCGCAGGGGCTTGCCCAAGGGAGCTGAATTGAACTGGAGGATGTCGGGGGTGGCAGTGGCCAGAGGCTGGCACAGAAGCTTGGCTCAGGGCCCAGCTTATGCTAACATTTCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCTCAACCCCATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGAGATGGCATCTGGGGTGGGGGGCCTGGGACTCCCTCTGGTCCCAGGCTGCCCTGCTCCACCCCACGTCTGGCCTTCTGTCCACTGTGCTGCAGGAATGAATGACGTCCTTCCTAACAGTCCGCCCTACTTCCCCCGCTTTGGACAGGTGGGTGGGGACTGCTGACCTTCGGCTGTCTGCCTGTCTGCTGTCTGCTCCGTGTCTCCCACTCAGCACTATGGAGGCCAGCTGCAGGAGGAGCTGAGCATGAGGCTACAGCAGGGGACAGAGTGGAACATAGACAGGGACTTCCTGGCACCGAGACATTAAAATGAGAGCAGAGGAAGTCAGGCTGGGGCAGAGGTGGGCTGTGGGGTCAGGACAGGACAGGTCATCTACAGCACAGGACCCAGGACCAGGACCTTGTTTTAGAGGAAGAGTGGCCCCTGGGGAGTGTGTGGCACAGCAGGGCCGGGGCTTAGCTTCTGGCTCCCGGGTTGCTTGGGCTGGGGCTGTGGGCACTCCTACTGCTCCTCATCACTCTTGGCGGCCACCCCACAGAAAATCACTGTGCTGATCGGGAAGCCCTTCAGTGCCCTGCCTGTACTCGAGCGGCTCCGGGCGGAGAACAAGTCGGCTGTGAGTTTCCTCCTGGGTCCCCCGTAGCTGTCCCCGGACCCCCTGCTGCTGGCTTCCAGCAGGGTGCCTCCACCCTCTCCATCCCGTCACCCTCCCAGGGCACCTTGGCCAAGCTTCCCGAGGGGTGCAGGCCATCCCTGGTCCTTTCCCTCAGGTGGAGATGCGGAAAGCCCTGACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCAGCTCCACAACCACCTCCAGCCTGGGAGATAGGCCTTGCTTGCTGCCTTCTGGATTCTTGGCCCGCACAGAGCTGGGGCTGAGGGATGGACTGATGCTTTTAGCTCAAACGTGGCTTTTAGACAGATTTGTTCATAGACCCTCTCAAGTGCCCTCTCCGAGCTGGTAGGCATTCCAGCTCCTCCGTGCTTCCTCAGTTACACAAAGGACCTCAGCTGCTTCTCCCACTTGGCCAAGCAGGGAGGAAGAAGCTTAGGCAGGGCTCTCTTTCCTTCTTGCCTTCAGATGTTCTCTCCCAGGGGCTGGCTTCAGGAGGGAGCATAGAAGGCAGGTGAGCAACCAGTTGGCTAGGGGAGCAGGGGGCCCACCAGAGCTGTGGAGAGGGGACCCTAAGACTCCTCGGCCTGGCTCCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACCTCCTCAGGGATGGCCGTTGGCCACGTCTTCCTTCTGCCTGAGCTTCCCCCCCACCACAGGCCCTTTCCTCAGGCAAGGTCTGGCCTCAGGTGGGCCGCAGGCGGGAAAAGCAGCCCTTGGCCAGAAGTCAAGCCCAGCCACGTGGAGCCTAGAGTGAGGGCCTGAGGTCTGGCTGCTTGCCCCCATGCTGGCGCCAACAACTTCTCCATCCTTTCTGCCTCTCAACATCACTTGAATCCTAGGGCCTGGGTTTTCATGTTTTTGAAACAGAACCATAAAGCATATGTGTTGGCTTGTTGTAAAATGTCTCTGGCCTCTCTGTAGGGGTGAAAATGGGAAGTGACTGCTGGACAGAAAGGCTGAACCCTTAGTGCCCTGGGGACATGGAGCACACTTGAGCAGATGGGCATCAACCTCTTCTGCACCAGTCACTTAAGGCTTCAGTTATTGTCTGTAATCCCTGTAACAACATTGCAGAAATAGGGATTAATCTCATTTTGCCAAGGAGGTGGAGTGAGGCTAATGAACTTGCTTCAAAACCCAAAGCTAGCCAGGTAGATTGGGGCCACACTTCAGAGAGACCCAAGTGTGGAGAATCAATTGGATCCTACCTGGGCTGCATCATAGGTGGGAGAGGAGCTCTGAAGAGCCCGGCAAGTAGCCAGCCATGAGCAGTGCACGCTGTGATCAGGAGGTAGGATTGGGGTTGCCCAGATGGAGCTGGGGGTCCTGGGTGGGAGCAAAGGCAAATCCAGGGTGGTGGCGTAGACACAGTATTAAAAATACTATAACAGAAACGTGGAAAGAAAGAAAATATAGAACCACCAAAGATGAGCCAGCAACAAGAGAAGATTCAGACAACCAGGTCTTTCAGCAGTGTTGGTGCCTAATTATTTCAAAATAAAAGGTTTTTAAAAAAATGACCAAAAAGGGAAAAAAATTACCTGGGAAAAAACAAACACTTGTAATTAAATATAGATAGAAGCAGCTGGGCACCATGGCTCACGCCTGTAATCCCAACACTTTAGGAAGCCAAGGTGGGCGGATCATTTGAAGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGGCCAGTCGCAGTGGCTCACACCTGTAATCCCAACACTTTAGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTGAAAATACAAAATTAGCAGGGCATGGTAGCGCATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGAAACAGCAGCGAAACTCCGTCTCAAAAAAAGAAAAAAAAAAGGCTGGGCCTGGTGGCTCACACCTGNNNNNNNNNNNNN
|
benign
| 342,314 |
Evaluate this variant at chromosome X, position 154428787, gene ATP6AP1 (ATPase H+ transporting accessory protein 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
benign
|
CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCTGGGCGA
|
CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCTGGG
|
benign
| 342,320 |
Variant chromosome X, position 154428787, gene ATP6AP1 (ATPase H+ transporting accessory protein 1): benign or pathogenic? Disease(s)?
|
benign
|
CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCTGGGCGA
|
CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTTGCTAGGCTGGTCTCAAACTCTTGACCTCAGGTTATCTGCCCGCCTCAGCCTCCCAGTGTTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGATTTCAATGAACAAAATGCTTTTACCCTAAAGATGAAGTCCCCAGACAGAAGGTGCTCATTGGTGCTGTCAACATTTGGTGATTGGTTCAGTTTAGATATCACCTCCTGGTGGGAGCAGCTTCATCGGTGCCCCTCTCCTTACATCCCTCCCAGTCCCATGTCTCAACCTTTGGAATATTCATGACCCTGTATCATGACCTGCTGTCCTGCATGTCCTCTAGACCAAACTGTCAACTTCCGGGGCAGAGTCCAGGTGCCTGGCCCATAGCAGGTGCTTCAGGAAGCCTCCAGGGCCATCACTCCAGGGACCCCTAGCAATGCAGGGAAGAATAAAAGCAGCCACAGGTGGGTTTCTTCCCTAAGCATGGAAGCAGCTCAGCAACAGAGTCCTGGCGGAGGCAAGATTGCCTTCCGCATTCCAGAGGAAGTATTTGCCTTGAAACTATGTAACAAAAGTAACAGAAACATAATAGACATGCTTTCCTTTTTAAGTTTGCTGGATTCTCCTGGGATACAGTGAAGCTCCAGTGAAAACCTCTCTCCTCAGCTAGTTAAGGCCTGGAAATGGCCACTTGGGGGTTTCCCTAAGCACCCGAAACTCAGTGAGCCCCCAAGTGACCTCGTCTCCCAGTCCCCAACTCAGAGAGACCCAAAAGCTACAATCTTCTTTGACTGTATTGTCAGACCCACTTCCTCTCTCCAGCTCAACTGCCACTATCCTAGTCCTAGTCTGAATCACATGTGACAATCATGACTACAATCTTTTTTTTTTTTTTTTTTTGAGATGGACTCTCACTCTGTCGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAACCTCCGCCTCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAACTGGGACTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGTGCAGGATGGTCTCGATCTCTTGACCTCATGATTCGCCCGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCGTTAGGGTGTCTTTGATGCCACGCTTCGCTCTGGGTTTTCTCCTTCCTCTTTGATTGCTCCTTGTCCGATCTCTTTTCTGGACCCTTCTCCTCCTGCCCAATGTAAGTGCTGGGTGTTCCCCTAGATGCTATCCTGAGCCCGCTTCACTCCTCGTTCTAAGGGATTACAGTCTCCTCTCACCTGTATCAGGGAGGGTCCATCTGCAGGAAAAAGACACCACTTTTGCAATTTTAAGGAAAAGGATTAAAACAGGGATTGGCCGGGTGCGGCGATGCGCGCCTGTAGTCCCACTTTTCCGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCGGGGACTCGAGACCAGCCTGGCCAACATAGCTAGACCCCGTCTCTAAAGAAAAAAAAAAGACAAAAGAAGAGAACAACAACAAAAAAACCAAAATAAAAATAAAAATAAAAACGGACGGGCGAACGCGTCGGGTGGGCGTAGGGTTCCGCGAAGCCTCCCTGTCCCTCTTGTCTCGTCCTAGTCGGTCTAGCTGGGCCCCATCCCCTTTCCCACTCGGAGCGTGAGCGCCTGGAGACACGTACAGCCAACCAGTGAGAAGGAGTGGCCGCGAGTGGCATGCACTTGGTCCAATTACCTGCGGCCCTGCCGGTCGGCCCGCGCTGGGGCCAATGGAGGTGCGAGGCGGGGCTCGGGCGGGGGCAACGGTCACCTGATCTGCGGCTGTCGAGGCCGCTGAGGCAGTGGAGGCTGAGGCTATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGGTGCGCCCAGGCGCTCTGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCGGTGAGCGGGCCGGGGTGGGATGCGCTGTGGCGGCTGAGGCGCCCTCGCCCGACTCCGGCGCTGTCCTAGGCGAGGGGTGGTGAGGCCCGGAGGTGGACTGTTCCTTGCTCGGGGGCTCGCAGCGAATCTGCCGGCGACAGAGCTCCAGTCCACATGCGCCCCCGTCTGACAGCACCTCTTCTGTGCCCTGCCAGGGACTTGTGGGCTCCTGCGGCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCCGCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAGGTGCGCCCGCCCCAGCCCACTCTCCCCCGGTCATCGGGAGGCAGCCAGGCCCCCTCCCCCCATGACACTGACGCCCATTCCCCAAGGGAAGCTTCAGTGACCTTGTCCCAACTGTAGGGAGGTGTGGGTCGTCTCATGGGAAGGCCTGTAGTAAACGCTTCAGTGGGCATGGCGACAGCCTCGGAAATGGCACCAACTTGATTGGAGGAAGCGACGGACCAGAGGCCAGGTACCTACTGAGTACCAAGCACTTTGGATATCTGACTTAGTCCAATATGGTGGGTGGGGATTATCGTCCCTGTTTGTTTATAGATGAGAAGACTGAGGCTGGAGGTTAAGTGACTTGTCCAAGCTCATACAGCTAATGGGTGGCAGAGTTGTAATTCTAGCTGTGATGATCATAATAATGATAATTGGAAAATGCTCACCTGTTTAGTGCTTTGTAGGCACTTGCTACACTGATGTCATTATCTTGGTTTCACTGCCAAGGAAAGTAAGGTTTGTCGAGATACAATGTTTCACTACAGTTGATAGATACCACTTTGGTTCCAGCCTGAGTCTGCCAATCCTCCCTCCCAATTGGAGCTCATAACCCGCATGCTGTTTTCCTTCCCATCCAGGATCTTTGCCCCAAAAGCAGGCGTGGAGACCATGAGATGACTCTAAGATAGCAAGTCTCTGCTAGGCCCTCCCTTGTTGGTGGCCTGTATGGCTCATTGCCCTTGTAGTCTCCCTTGGTTGCTGTGTGGGCAGATGGTGGTGGCCTGAAGTCTTTTCAGGAGGTGGTAAATAATATAGTCAAATAGGAACTGAGTCCTAGTTCTACCATGTAACCAGCCATTGGAGGCATGAAATAATCTTTGTGAATGACAGTTTCTACATCTGTAAAATGAAGACACCACCTATATCAGAGGGCTGTGAGTGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATGTCAGCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGGCGCCCGCCACTACACCCAGCTAATTTTTGTATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTGAGGGGGAATTCTTATAATCCACATAAAACATCTAGCCAGGATCCCCCAGTCTTAGGGCATTCACCCATTCATTCATTTGCCCAATATGGAAAGCCTACTATGTGCCAGGTATTGTGAAGTGTTGGGGATATGGCAGTGAGCAGAAGAACCCAAGCCCCCACCCTCAGGAAGCTGACATTCTTGTGAGGGTGGCCAGTAAATACTAAGTCGGTATAGGATATGATGTCAGTGTTACGGCCTTTAGGGAAGGAAGCAGGCTAAGGGGACAGAGTGACTGGGATGCTATTTTAGATAAGGGTGGTCAGGCCAGGCCTCATTGAGGAGGTGATATATGAGCAGCGATCTTAATGGAGGGAGGGAGCCGTTTGGGGAAGGACATTCCTGGAACAGCAAATGCGAGGGTCCT
|
benign
| 342,321 |
Gene mutation in G6PD (glucose-6-phosphate dehydrogenase) at chromosome X, position 154532268—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency']
|
TGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCC
|
TGTCCTTGGCCCCCATCAAGCTCCTTTCCCTATCTAGGGTCCAGGTGAACTTGGCATACTTCCTCCCTCTGAAAACTCAAGAGGTGCCACTCCCCATTCAGGGCACAGGAAGAGCAAGAATTGAACACCGGGATGCAGCATGTGTCCCTGTTGCCACAGGTCTCACCAGAGGCCTCCTTCATTCTACGACATCGGGCCCTGCTACCTGCAGCGCCCAGGGTGCGCGTCCTCACCTGTGCTGCGGGTGGAACACTCCTCCCTGGCCACTTTCCAGGCCACTGGTTTGCTCTCCGCAAAGGACAAATCCCAGCACCACCTGGTTATTTTGTTCCCTGCCGGCCTCACCTCCTAGAACCCGGGCCACAAGTGCAGGGACCATAGTGTCTGGTTTCGCCATCTCCCTGGCAGGACACATGCTGCACTGAAACACCCAGGGGCTGTGTGGGGAGCAGTGCAGGGGCTGAACAGCGGCCCCCAAATACATGTCTCCTGGGAGTTCCTGATGTGGCCTTATTTGGAAATAGGAGGTCTGCAGATGTCGCTGAGTTAGGACATAGAAGTCACACCATGGGGAGGCCACGAGAAGACAGGCAGAGTGAGTGGAGTGAGGTGACCACCAGCCCAAGATGCCTGGTTCCCCAGGAGCTGGAGAGGGCAGGAAGGACCCTCCCCTTGGGCCTCTGGCGGGAGTGCTGGATCTTGGACTCTGGCCTCCAGAACTGGGAGAATCAGCCTATGTTGAGAGCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCAGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCN
|
pathogenic
| 342,381 |
Mutation at chromosome X, position 154533012, within G6PD (glucose-6-phosphate dehydrogenase): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency', 'Malaria,_susceptibility_to']
|
GCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGC
|
GCTGCCCAGTGTGTGGCCCTTCTGCCTGGAAGGGGTGGCTGGGCCTGGCTGTGCATCACTGTGGACTGTCCCCTCTCCCTTGGCCTCTGACATCAGTCACAAAACCCATCCCCTCTCCTTCCTAAATACTTCTGTGGACTGGCAGTGTTGCTGGAAGTCATCTTGGGTGGGGCAGGGACATGGACAGTAAGAGCGGAAGGTGACCCCACATCCTTGCACCTCAAGCTGGTCTCACAATGACAATATGCGTGGAGCGGAGGAGGACTCAGGAGGTGTCTCTGACACCAAACATGGTCATGGCTGGACATGGGGTCAGAACCAGAAGTGAGGAGGCTCCTCAGTGGCCACAGAGGAAGCACCCGGGTGACTTGGGGAGTGGGACAAGGAAGTGGGTCCTCAGGGAAGCAAATGACAAGGGGACAGGAGGGGCTGTTTGCGGATTTAATGGCAGGGCATTGAGGTTGGGAGGGGTCCCAGCTGCTGCGTCTGCTTTTCTTATAGCAGAGAGGCTGCCTACGGGTGGCACGGGGTGGCCATGGAGTGCAGAGTTGGTGGGACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 342,412 |
Chromosome X, position 154533567, gene G6PD (glucose-6-phosphate dehydrogenase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
GACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGAC
|
GACAGGGGACATCCAGGGGGCTCGAGATGTTGCTGGTGACAAGGAATGTCAAGTGGCACTGAGGCTGGCGGGCAAGGCCACAGGCAGATTCTCTCACGTGGGTGCTCGCCCCTTTCCTCCCCCTCGTCCCTCCCTCCCACCCTGGCCCCACTCAGGAGTGAGACCCAGTGGCCAATAAGCTCTGGGACAGACGAATGGGCGCCCTCCTCCTTCCTTCTGTTGGGCTGGAGTGAGTGGAGGAGGTGACTCAGCTCCTGGGCTCAGGCAGGGTCTGGAGGGGCCAGGATGGTCTCGAGTGCTTGGCAGCTGAGGAATGTAGCTGGGCTCGGGTAGTAGCAGCAGCGAGGGGCGGGCCAGGGTGGCCAGAGCCCGGGGCCAGGAATGTGCAGCTGAGGTCAATGGTCCCGGAGTCCTCCCGACTCGGGGTCGGGCGGCGGGAAGGAGGGTGGCCGTGGCGGGGGTGGAGGTGGGTGCCCAGGGCTCAGAGCTTGTGGGGGTTCACCCACTTGTAGGTGCCCTCATACTGGAAACCCACTCTCTTCATCAGCTCGTCTGCCTCCGTGGGGCCTCGGCTGGAGAGTGACGGGTGGAGGAGAGGCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGA
|
benign
| 342,419 |
A genetic variant at chromosome X, position 154534164, affecting gene G6PD (glucose-6-phosphate dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
GCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGACCCCTGTGCCTTAGGACAGAGGCCAGATTTCAGGATATTTTGACCTGGGAGAAATACACTGGAGAAAGCTCTCTCTCCAAAATCATGACACCCAACTATGATTGGCGGAGAAAACGCAGCAGAGCACAGCAGGAGGGGACCTGTGGGTCCTGGTCACGGGGGCTGGTAATGGGGGTCTCAAGGAAGTACGAGAGCAGGCGGGGCGGGGCAGGAGAGGAGGAGAGCATCCCGGGATGGGATGGGGGGAGGTCCCCGAAGCTGGCCATGCTGGGGGCTGGTAGAGAGGGCAGAACCAGGCTGGGGGAGGCCCTGACACCACCCACCTTGAAGAAGGGCTCACTCTGTTTGCGGATGTCAGCCACTGTGAGGCGGGAACGGGCATAGCCCACGATGAAGGTGTTTTCGGGCAGAAGGCCATCCCGGAACAGCCACCTGAGGGCAGGGCACAGCTGTAACCAGTGCGGGCAGGGCAGGACCAGGCCTGTCCCTGGCGGGAGGTCACAGGGGCAGTGGTGGGACACACTTACCAGATGGTGGGGTAGATCTTCTTCTTGGCCAGGTCACCCTGTGGCAGAGGGAACAGGTGTGTGGTTAGAAG
|
GCATGAGGTAGCTCCACCCTCACCCCGCCCCTGCCCGCTGGGCTCTGTCCCCAGCCCCCACCCTTTCCTCACCTGCCATAAATATAGGGGATGGGCTTGGGCTTCTCCAGCTCAATCTGGTGCAGCAGTGGGGTGAAAATACGCCAGGCCTCACGGAGCTCGTCGCTGAGGGGACATGGTATGGCTTGGGAGGCCGGTGGCACACAGGGAGGGAGGGCAAAGGCCACCCCATAGCCCACAGGTATGCAGGGGCCGGCAGCTGGGCCTCACCTGCGCACGAAGTGCATCTGGCTCCCGCAGAAGACGTCCAGGATGAGGCGCTCATAGGCGTCAGGGAGCTTCACGTTCTGTGAGGGAGAGAGTGTCTTGCTGATGCCACTGCCTGCCACCATGTGGAGTCCCCCGGGCCCAGGCCGCCCACCCTCCACACTGCTCCTTCTCTGTAGGGCACCTTGTATCTGTTGCCGTAGGTCAGGTCCAGCTCCGACTCCTCGGGGTTGAAGAACATGCCCGGCTTCTTGGTCATCATCTTGGTGTACACGGCCTCGTTGGGCTGCACGCGGATCACCAGCTCGTTGCGCTTGCACTGCTGGTGGAAGATGTCGCCGGCCACATCATGGAACTGCAGCCTCACCTCGGCCTTGCGCTCGTTCAGGGCCTTGCCGCAGCGCAGGATGAAGGGCACCCCTACGTGGCGGAAAGGGCAGCCTCAGCACCAGCTCTCTCAGGGTGTGGACCAGTGCGTGAGTGTCTCAGTGGGAGCTCCAGTGCCCGCACACAGGGCATGCCCAGTTCTGCCTTGCTGGGCCTCGAAGGCATCACCTACCATCCCACCTCTCATTCTCCACATAGAGGACGACGGCTGCAAAAGTGGCGGTGGTGGACCCGCGGGGCACCGTGGGGTCGTCCAGGTACCCTTTGGTGGCCTCGCCCTCTCCATCGGGGTTCCCCACGTACTGGCCCAGGACCACATTGTTGGCCTGCACCTCTGAGATGCATTTCAACACCTTGACCTGAGAGAAAGCCAAGGGAGAGAATGGGCTCCTTGGGTGTTGAGTTGGGGTGCAGGGATGACTGTGGCCACAGATGTGCAGCCCTCAGGGCAGGAGGAGGCCCCTGCTTGGCTCTGCTCACCCTGCCAGAGGCCCAGCTCAGGGCCCCTCCCTGAGGACCCTCCAGGACCACCCTGGTCCATCTCGAGTCTATTCTGATGAACAAGCTGAGGCCCAGAGAGGCAATGGCCTTCCCTGGTCACATAGTGACTGTCAGGCCTGGGACATGACAACTTGGGCTTCATGACTGCCAGTCCAGGTCACCTCCGGGAGGCCACGCTGTGCTCAGAGGTGGTGACTTCTCCGGGGTTGAGGACACCTGCTCTGCATGCACACCCCAGCTCAGTGCCTCGTCACAGATGGGCCTGCGACAGGGCATGCTCCTGGGGACTGGGGTGCACCCCCTACCTTCTCATCACGGACGTCATCTGAGTTGGTGGAGGCGGGCTTCTCCATGGCCACCAGACACAGCATCTGCAGTAGGTGGTTCTGCATCACGTCCCTGGGGACGGAAGAGGCCAGAGCTCGCCTTAGCTCCCCGCCCTGTTCACCTGGTTCAAGGGCATGGGGACCCCAAACAAGGCTTCCTAGTGACAAGCTGCAAGACTCACTTCCTGATCCCCCTTGTCTTCCAGGTCCCCTTAAATCAAGGAAGGACATGGTGATGCTATCACTGAATCATAAAACCGTGGGGTGCTTGGCTGTGTAGGGGTCCAGCCCTTTCCAGCCCGGTCTGATAGCTCAGACACTTAGGTTTTGAACTGCAGGGTGAGGAGGAGCTCCCCCAAGATAGGGAAGAGTAGCCCTGCAGGGTGACTGGCTCTGCCACCCTGTGCCAGCCTCCCAGGAGAGAGGAAGAGCTCTCACCGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAGTGCCAAAGGGCTCCTTGAAGGTGAGGATAACGCAGGCGATGTTGTCCCGGTTCCAGATGGGGCCGAAGATCCTGTTGGCAAATCTGCAGGGGCAAGGTGGAGGAACTGACCTTGGGCCTCTGTGGTGCAGGGGCCACATGTGAGGGGTCACCCTTGTCTGAGTTCTGGAGGAATTCGTCCTCGGGGAGGCAGTGGGCCAGGTGAGGCTCCTGAGTACCACCCCCACCCTGGTCCCCCGGCCCAGGCTTGGCCCCACCTCAGCACCATGAGGTTCTGCACCATCTCCTTGCCCAGGTAGTGGTCGATGCGGTAGATCTGGTCCTCACGGAACAGGGAGGAGATGTGGTTGGACAGCCGGTCAGAGCTCTGCAGGTCCCTCCCGAAGGGCTTCTCCACGATGATGCGGTTCCAGCCTCTGCTGGGAGCCCGGAGCTGCGTTACCCCCTTGAACCCCTCTTCGGGGAGTGAGGATCAGAGCTGCATCATTCAGACGCCCTCCCAGGGGAGTAGAGGCCAGAACCTCCTCGCCCCCGTGGCCACCTCCCGTGCCTTGTGTTCCCAGATGACCCTCTGGCTCAACACCTTCCGGGAAGCCTTCCCACCCTGGGTGCCAGGGTGGCATTGCTGGCATGCTGCCGGGGGCCCGTTCCCCTCCTGCCTCATGCTGGGTCCCCGGTGGGTCTGAGTGGCCTGAAGGCCTGTAGGGGAGCAGGGGGAGGAGGCATCCAAGCCATGGCTTCCTCATTGGTTTTGAAAATGAGAAGAGGACCTTTGCTTTACTACCCCCGCATTCAAAACCAGCCAGAGGACAAGAGCCTCTGGCTGGGTTGGGAAACCACCCAGCGCGGGCCATGCTGCATTCGCAGAGCAAGGCTGCCACCCTGCGGCCTGGCCGGGCCTTTGGGGAAGCAGAGCGGAAAGGCGGTGTTTCGTGGAGCAACGCTGCCACCTTGTGGTCCCGCTGGGGATGGCCCCGGCACCATGGATGCTGCCCAGATCCCCGGCCCCGGACACGCTCATAGAGTGGTGGGAGCACTGCCTGGGCCAGCCTGGCAGGCGGGAAGGGAGGGCAACGGCAAGCCTTACATCTGGCTCATGCAGGACTCGTGAATGTTCTTGGTGACGGCCTCGTAGACGGTCGGGGGCAAGGCCAGGTAGAAGAGGCGGTTGGCCTGTGACCCCAGGTGGAGGGCATTCATGTGGCTGTTGAGGCGCTGGTAGGAGGCTGCATCATCGTACTGGCCAGCCACATAGGAGTTGCGGGCAAAGAAGTCCTCCAGCTTGAGCTTCTCCTCTGGGGTGGCCTGGGAGACACGGACAGACAGACACACAGACAGATGTCAGCCCCTCTCTTTGAGTCCGTGTGTGTTCTGCCCCAGGGGAGTGGAGGGTCTTCCCTGGAGGTCCAGGGAGGGTGCCCTCAGAAGTCAGTGTCCCCGTCCCACACTGGGTTCAGCCCCATCTTAGCAGCTCTGCACATCCAGAGGGAGGGAGGCCAAAGCAGGCAGCACAGACACTGCCCCAGGCTGGGACCCCTGTGCCTTAGGACAGAGGCCAGATTTCAGGATATTTTGACCTGGGAGAAATACACTGGAGAAAGCTCTCTCTCCAAAATCATGACACCCAACTATGATTGGCGGAGAAAACGCAGCAGAGCACAGCAGGAGGGGACCTGTGGGTCCTGGTCACGGGGGCTGGTAATGGGGGTCTCAAGGAAGTACGAGAGCAGGCGGGGCGGGGCAGGAGAGGAGGAGAGCATCCCGGGATGGGATGGGGGGAGGTCCCCGAAGCTGGCCATGCTGGGGGCTGGTAGAGAGGGCAGAACCAGGCTGGGGGAGGCCCTGACACCACCCACCTTGAAGAAGGGCTCACTCTGTTTGCGGATGTCAGCCACTGTGAGGCGGGAACGGGCATAGCCCACGATGAAGGTGTTTTCGGGCAGAAGGCCATCCCGGAACAGCCACCTGAGGGCAGGGCACAGCTGTAACCAGTGCGGGCAGGGCAGGACCAGGCCTGTCCCTGGCGGGAGGTCACAGGGGCAGTGGTGGGACACACTTACCAGATGGTGGGGTAGATCTTCTTCTTGGCCAGGTCACCCTGTGGCAGAGGGAACAGGTGTGTGGTTAGAAGNNNN
|
benign
| 342,431 |
Does the variant impacting IKBKG on chromosome X, position 154545836, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
GGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGGGTGCCACTACACCTAACTAATTTTTGTTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGTTGCGATTTCTGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCCGGCCTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGACTCCCTGATTCAAGCGATTCTACTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCGCCCAGCCAATTTTTGTATTTTAAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGTGCCCGGCCAGGTATGGCTCTTCTGAGGGGACCAGGCTGGGGCTGGGGCTGAGGCCAAGCCCAATCTACTGTGGGCTCCACCTGGTACCTCTCCTGGGTCTCAGGCTTATGGGGAGTCAGAGGACAATGGCCCCTCCTTACTCTGCCACTGGCAGAGCCCTTCTCCCTCGGCTGCCTCCTCATTCCCTTTTGGCTCTCCTTTTCTAAGTTCTGATCAGAAGTACAAAGGTGTCAAGGAGTAGGTTTGACAAAGTGTGACAGCGCGTTGTTCTATGTGAACAAAGAACCACTGAGCTCAGCCAGCACTGAGGGGCGCACGATGTGGAAGAACTAACTAGTTTTGATAGAGCTCCTGCTCAAGGTTACAAGGTAAGTTAATGGCAAAGATGGTCATACAGTAATGAGCAGAGAGATTCTTGAGTGCATCCAGGGTTAAAAGTGAAAACTGAGACCACGTGTAATTTGAGATGAAGCCCTTGTTCCACCAGCCCCTGCACAGTCTCACTGCCCCATGGGACACAGGGGAGGGTGCTCTAGTCTCGGGCGATGGCTGTCCTAGGACCACCCCTCCCTCCCCTCCCATGGAAATCCTCATGCTATACTATTCTTTTGTCTTTCCTATGAGTGCAGAATGGCGGTTCTACAAGCTGGACAATTGGGGCCAGGTGGGGTGAGGCAGAGCTCCTTGGTAGGCTTTCGAAATTGAGGCAAAGAGACAGTGTTCAAAGAAAAGCTAAGTGTTTGTATCGACGGAACTTGAAGTGTTAGTGAAGAGGCAGAGATCAGGCCTCAGATCCTGCCTTTGGAACTCATTTGTTAAGGCATGAACAGGTCTGAAAAAACTACAGAATGAATAGCATTCCCTGTTTTCCCCAAGAAGTCCATCTAGACAGTCCCTAAAGAGCCTGCAACTCCAGGATTAAGGGCTACATTCAGCGGCTAGGCACAGGGTTCAGAAACGTCCTGCAGCCGGGCGTGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACTCCGTCTCTACTAACAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCTCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCCGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACCCCATCCTGGGCGACCAGAGCAAAACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAGTCTTGCAAGTGCATATGCACACCAGGTAGAGCCGGGATGATCCTGGCGCACTAGCAGGAGCGGGAGGAGGAGCTCAACTTAGCAGAGCCTGTGGGGCCCTGCAACAATTAGTTGGAAAAGCTGAGGCATGGAGCAGGCACTTCCTGGCTTTTAAGATTGGGGCCTGGGAGATACTCACCGATGCACCCATGATGATGAATATGTGTGTATCCGACTGATGGAAGGCATCGCCCTGGAAAAGCTCTTCCCGCAGGATCCCGCACACCTGGGTCCGGCTCAGGGCCACCTGCTCTGCCATGACGCTGTCTGGTGGAAGAAAGGCTCGTTAACAAGGCAGAAGAACAGGAGAGCATTGAGAAGTTAGCCCCTTTCTTGAGAGTTCCTCTGGGGTCTCACACCAGGGTGACACCTGATTGCCCAAATCACTCCTTGTGAACGGCTGGGCATTGGGGAGTGGTTGATGGGTTAGAAACTGCTGGCTCTGGGCTCCAGCCACTCTCTCCTAGGCAGCCTTCATTCAGGGTGTACATTACAAAATTACTCAAAGCATTGGTGTATTCCGACTACAGCATCAATTCTGGACAACCGAGTAAAATCCTTGTGGGGCATGGAACTGCGTGCCCAGGACCATCTCATTCCCGACTGTAGCGGGAACTCCACAATGACCTGGAGCATGGGAGATGGTGCAGATGCTGGAGTTCAGCTCCAGCCCTCCCCTTGCCAAGCTGGGTGACCCCGGTCGGCAAGTCCCCTTCGCTCTCGGGGTCTCAGGGGCTCAAGAGAGGAGGTGCGGGGTATAAAGGGATTGGTTAAGACCCTCTCGATTCTGCTCGGTTCTCAAGCACAACAAACAGCGTGTATTTTACCGCCGCGCGGCGCAGCGCGGGACAGTACGCTCCTCCGCCTGCGCGGCGCCCGCCCGGCCGGTTACCTGCGCTTCGTCGTCGTCGCCCTCCGCGCTCGCAGCCCCGAAGTGTACGACCGTTTCCGGGGGCTGAGCCCCGCCGGCCCATTTAATCGGCGGGGGCGGGGGCGGGCGCCTGGGCTGAGCGGACCCGCCTCAGGCGAGGCGTGCGGGGCGGGGCCTCGGCCACCACCCCTCGTGCGGGCGGGGCGGGGCGAGGGCAGGTGCGCGCGCATCCCAGGCCAGCCCCTGCCTCTCGGGCACCTGCGCTGGAGGCCGGCCCGCCGGCTGCCTGCCATACCCGCTGCCGCTGCTCTGCATCCCCAATTCCGGCGGGCACGGGTGCAGCTCCGCGTAGTGCTCCCGCATCCCCATCGCCGGCCCGGCCCCGCCCCTACTGTCCGGTTTCCCCGCCTGCCCCGGCGGCCTCGCGCGCTCGCGGAGGGCTCCACTTCCGCCGGCAGCGTGGCCACGCCTCCTCTGGGCTGTCCCTCGGCTCCTGGGCGGGGCCTTCTGCCGCGCCACTCCCCCGGGAACCCTCGCCTGTTCGCGGGTCAAGCCGGCCCTATTGGGCAGTCTCTTCTTGATTCCTCCCCCGGAGAGGGCGGGGCGGCCGAGCGCCCCGAGGCTAGACGCCGCCGTCCGAGAGACGAGGGGGCGTGTAGGCGGTGACGCCCTGCAAAGTGGCCGGCGTGCTTATCATTACCGAGCTTCCGCGGGCCTGCAGAGCCTGGCGGACTCAGACTTCTCTCCGGAGCGGGATGCGGCCCTACCGCGGCCTCACACTTCTCGCCGGCTTCCCGAGTTCTCGGGGGCGGGGCTTGTGTTTTTACTTCCGGATCCCACAGCTATGACACCGGAAGCCGGAAGCGTGGTAGGGAAGGGCGACCGCGAAACTGGGACTTTCTCGGAGCGCCGGGGCCCTACCAGCGTTCACAGTCCGCCGCTCCCACCCTTCTCACGTCTGACGGACTCTGCTGACAGGTGTGGTCCTTTTCCCCAAAGACAGGGTTCCATCCGTGGGCGTTCCGCCGCCTCCGAAACTTCCCCCGGACGTTCAGGCTCCCCCCTCTTTTTTGGGCCCCAGCCCGTTCCTGCTCCGCGCTTCTGGAGCACTGGCCA
|
GGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGGGTGCCACTACACCTAACTAATTTTTGTTATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGTTGCGATTTCTGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGACTACAGGTGCCCACACCAGGCCTGGCTAATTTTTTATTTAGTAGAGACGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCCCGGCCTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTGACTCCCTGATTCAAGCGATTCTACTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCCACCTTGGCCCCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGCGCCCAGCCAATTTTTGTATTTTAAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGCGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGTGCCCGGCCAGGTATGGCTCTTCTGAGGGGACCAGGCTGGGGCTGGGGCTGAGGCCAAGCCCAATCTACTGTGGGCTCCACCTGGTACCTCTCCTGGGTCTCAGGCTTATGGGGAGTCAGAGGACAATGGCCCCTCCTTACTCTGCCACTGGCAGAGCCCTTCTCCCTCGGCTGCCTCCTCATTCCCTTTTGGCTCTCCTTTTCTAAGTTCTGATCAGAAGTACAAAGGTGTCAAGGAGTAGGTTTGACAAAGTGTGACAGCGCGTTGTTCTATGTGAACAAAGAACCACTGAGCTCAGCCAGCACTGAGGGGCGCACGATGTGGAAGAACTAACTAGTTTTGATAGAGCTCCTGCTCAAGGTTACAAGGTAAGTTAATGGCAAAGATGGTCATACAGTAATGAGCAGAGAGATTCTTGAGTGCATCCAGGGTTAAAAGTGAAAACTGAGACCACGTGTAATTTGAGATGAAGCCCTTGTTCCACCAGCCCCTGCACAGTCTCACTGCCCCATGGGACACAGGGGAGGGTGCTCTAGTCTCGGGCGATGGCTGTCCTAGGACCACCCCTCCCTCCCCTCCCATGGAAATCCTCATGCTATACTATTCTTTTGTCTTTCCTATGAGTGCAGAATGGCGGTTCTACAAGCTGGACAATTGGGGCCAGGTGGGGTGAGGCAGAGCTCCTTGGTAGGCTTTCGAAATTGAGGCAAAGAGACAGTGTTCAAAGAAAAGCTAAGTGTTTGTATCGACGGAACTTGAAGTGTTAGTGAAGAGGCAGAGATCAGGCCTCAGATCCTGCCTTTGGAACTCATTTGTTAAGGCATGAACAGGTCTGAAAAAACTACAGAATGAATAGCATTCCCTGTTTTCCCCAAGAAGTCCATCTAGACAGTCCCTAAAGAGCCTGCAACTCCAGGATTAAGGGCTACATTCAGCGGCTAGGCACAGGGTTCAGAAACGTCCTGCAGCCGGGCGTGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACTCCGTCTCTACTAACAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCTCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCCGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACCCCATCCTGGGCGACCAGAGCAAAACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAGTCTTGCAAGTGCATATGCACACCAGGTAGAGCCGGGATGATCCTGGCGCACTAGCAGGAGCGGGAGGAGGAGCTCAACTTAGCAGAGCCTGTGGGGCCCTGCAACAATTAGTTGGAAAAGCTGAGGCATGGAGCAGGCACTTCCTGGCTTTTAAGATTGGGGCCTGGGAGATACTCACCGATGCACCCATGATGATGAATATGTGTGTATCCGACTGATGGAAGGCATCGCCCTGGAAAAGCTCTTCCCGCAGGATCCCGCACACCTGGGTCCGGCTCAGGGCCACCTGCTCTGCCATGACGCTGTCTGGTGGAAGAAAGGCTCGTTAACAAGGCAGAAGAACAGGAGAGCATTGAGAAGTTAGCCCCTTTCTTGAGAGTTCCTCTGGGGTCTCACACCAGGGTGACACCTGATTGCCCAAATCACTCCTTGTGAACGGCTGGGCATTGGGGAGTGGTTGATGGGTTAGAAACTGCTGGCTCTGGGCTCCAGCCACTCTCTCCTAGGCAGCCTTCATTCAGGGTGTACATTACAAAATTACTCAAAGCATTGGTGTATTCCGACTACAGCATCAATTCTGGACAACCGAGTAAAATCCTTGTGGGGCATGGAACTGCGTGCCCAGGACCATCTCATTCCCGACTGTAGCGGGAACTCCACAATGACCTGGAGCATGGGAGATGGTGCAGATGCTGGAGTTCAGCTCCAGCCCTCCCCTTGCCAAGCTGGGTGACCCCGGTCGGCAAGTCCCCTTCGCTCTCGGGGTCTCAGGGGCTCAAGAGAGGAGGTGCGGGGTATAAAGGGATTGGTTAAGACCCTCTCGATTCTGCTCGGTTCTCAAGCACAACAAACAGCGTGTATTTTACCGCCGCGCGGCGCAGCGCGGGACAGTACGCTCCTCCGCCTGCGCGGCGCCCGCCCGGCCGGTTACCTGCGCTTCGTCGTCGTCGCCCTCCGCGCTCGCAGCCCCGAAGTGTACGACCGTTTCCGGGGGCTGAGCCCCGCCGGCCCATTTAATCGGCGGGGGCGGGGGCGGGCGCCTGGGCTGAGCGGACCCGCCTCAGGCGAGGCGTGCGGGGCGGGGCCTCGGCCACCACCCCTCGTGCGGGCGGGGCGGGGCGAGGGCAGGTGCGCGCGCATCCCAGGCCAGCCCCTGCCTCTCGGGCACCTGCGCTGGAGGCCGGCCCGCCGGCTGCCTGCCATACCCGCTGCCGCTGCTCTGCATCCCCAATTCCGGCGGGCACGGGTGCAGCTCCGCGTAGTGCTCCCGCATCCCCATCGCCGGCCCGGCCCCGCCCCTACTGTCCGGTTTCCCCGCCTGCCCCGGCGGCCTCGCGCGCTCGCGGAGGGCTCCACTTCCGCCGGCAGCGTGGCCACGCCTCCTCTGGGCTGTCCCTCGGCTCCTGGGCGGGGCCTTCTGCCGCGCCACTCCCCCGGGAACCCTCGCCTGTTCGCGGGTCAAGCCGGCCCTATTGGGCAGTCTCTTCTTGATTCCTCCCCCGGAGAGGGCGGGGCGGCCGAGCGCCCCGAGGCTAGACGCCGCCGTCCGAGAGACGAGGGGGCGTGTAGGCGGTGACGCCCTGCAAAGTGGCCGGCGTGCTTATCATTACCGAGCTTCCGCGGGCCTGCAGAGCCTGGCGGACTCAGACTTCTCTCCGGAGCGGGATGCGGCCCTACCGCGGCCTCACACTTCTCGCCGGCTTCCCGAGTTCTCGGGGGCGGGGCTTGTGTTTTTACTTCCGGATCCCACAGCTATGACACCGGAAGCCGGAAGCGTGGTAGGGAAGGGCGACCGCGAAACTGGGACTTTCTCGGAGCGCCGGGGCCCTACCAGCGTTCACAGTCCGCCGCTCCCACCCTTCTCACGTCTGACGGACTCTGCTGACAGGTGTGGTCCTTTTCCCCAAAGACAGGGTTCCATCCGTGGGCGTTCCGCCGCCTCCGAAACTTCCCCCGGACGTTCAGGCTCCCCCCTCTTTTTTGGGCCCCAGCCCGTTCCTGCTCCGCGCTTCTGGAGCACTGGCC
|
benign
| 342,467 |
Chromosome X, position 154560403, gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Incontinentia_pigmenti_syndrome']
|
GGCCCTTGGGCTCATGAGGCCCTAGGGCACCCAGGTTTGGGGGTGCCGAGGGCAGGAAAAAAGGCCTCATGGCGCGCAGGCCTCAGCCGCTTGCGGGTTGCCCCGGGCTTGCGGATGGCAGGAGTGGGCCGCTGGGGAGAAAGCAGTGCTGACAGGAAGTGGCTTTTTATCCTGCAGCAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGGAGACCCCTTCCAGGGTTTCCAAAAGCAATGAGGTGGGTTTAGGGGCCTCCAGGGTGCTCCTTGATGAGGATAGACCGGGGCAGGCTGCGTAAAGACGTCGGGGCAGACGTCGGGAGAGGTCTGGGCCAGGCATCCGGGACCTGGGTCCCAGCCGGCTCTCCGCACTCTGTGACCCTTTGATGGAGTTTGGATTATTTCCTTAGGAGGCATTCTGGGGGCCCCGAGCCCACACCCACAGTGTCTAGTTCTCTGGAAGGACTTCTGGGACCGGCGCACAGTCGCCCTCGTGGCTGAGGTTGATGACAGGGAAAAAGGCACAGGGCAGGAGCCGCCAGGGCAGGAGCCGTGGGGGGAGTTGGAGAAGCCCTGTCCCAGCCTCCCGCTGCCCTGCGAGCGGCACAGTGAGAAGCGCCTCCCACACGGGCCGTGTTCCTGCCCAGGGATGCCCGCTAGAGACTCAGCGCCCTGGGTGTTTACTGGGGGCAGGTCCTGTCAGCGCCCTCTGCCAGGCAGGTACCTAAATCCCCGACTCCCAGCAGCAGAGCGGGTGCTCACGTCAACCACGTTCTTCCTACAAATGGCCTAGGTGCAGGGACCGACCTGACCACTAGAGAAAGTGTCACTGTGGCAAGGGAACTTCACCAGCCAAGGGCCAACCTTGCCAGCCGGTGGCCTCAGGCCTGCTGGTTACTCTCTTTTGCAAAGGGGTCTTGGTTCTTGTGAGTGGGACCATTGGGTCAAAGGGCAGGGAGGTTTCTGTGGTTCTCATTCGGTCCTGCTTCTGCCCTCCAGACAGATGGATCAGCTGCCAGGGGGGCCCCAGCCATCCCAGCACAGTAGGCGGTCAAGGTGCACTTGGGGCAGCCAGCAGGGCAGAGGGGAGGGGAGCTTGACCCAGGCTCTGATGGGCAGAGGGAACCCGTGCAGGGTGTGGGGGCAGTATGCAGGCAGGCGCGGAGGGGAGAGCCAAGCAGCCAGGCCTGCCAGGCAGAGTTGGGGTGACTGGAGAAGGGCCGTGTCTGCCTGTGGCCAGAGGCCACCCAGGACCTGGACAGATGCACCCACCATTGTCCCTGCAGTGAGGCTGTGGAAGGGCTTGGTGTGGTGGGATGAGGCCAGACCCTGGAAACTGGAGGTTAAGGGAGCTGTAGGGGGGCAGGTGTGGGAACTGAGCATCCGAGCAGGTCGTCTGGGACTCCAGCAGAGCTCTGGGCAGCAGCAGGGATGGGGCCGAGGCCCGGTCTGCATTGAGCTCAGTGCTTGCACGCCCAGGTGGGCAGTCTCTCATTTTTGGAACAGCAGTCTCTCCTGACCCCCTCCACTGAGACTGCTTTTGCTGGGGCCCCCAGCAGTCCCCCAGTGGAACTCCACGGGCAGTTCCGAGGGCTCCTCTCACCTGGCCCCAGCACTGCGGGATGCAGGCGACCCCATCCTTTTCTCGGACCACCCCCTTCCCCTGGCTTCCAGGTCTCCTTGCCATCTGTACTTGGTCACCTGCTGGGCCCCTGCATTGAAGCAAACACGTCTTAAGCAAAGCTCCTCACCTGCTGCTCCCACCTGGCCCCCTGCAGTTGTCCTCGTGTCTGTTGACGGTGCCTCCACCCTGCCGCCTGGCATCAGCTCGCAGTCACAGGGTGTTCAGAGCCGACCCCCACCCCCCGCCCACGCCCTGCGCATAGCCCCTGCCGTCCCCCCGTTCGTCCTCCCTGAGTCTGCTCTTTCCCCGTGCCAGGGCCCGGGCGGCCAGCGAGCAGGCGCGGCAGCTGGAGAGTGAGCGCGAGGCGCTGCAGCAGCAGCACAGCGTGCAGGTGGACCAGCTGCGCATGCAGGGCCAGAGCGTGGAGGCCGCGCTCCGCATGGAGCGCCAGGCCGCCTCGGAGGAGAAGTGAGTCAGCGGGGGCGGGGCCGCACCGCAGGGTCTGTGGTTCTACACTTGATCTTAGCCGAAAGGCTGAGAAGTGTCGGGTCCATGGTTCTTTCTGCCTTCTGAGGACTCCTTCAGATTCTGCCTGTGGCTGTGGGCCCATTCTGTCCCTTAGCCTTGCTAACGGTAGAGGCGACCATGATGACACCCGGTTTGTCTTTGATACAGTCATGCCATCTGCTCTCCAGACCACGTTTCACTGCGTGTCCACACGTGGCCTTTTTTGTAGTTTTTTTTTCCTAGCCACTAGGTCATCAGGGGACTTGTCCTTTAAAACCCCTTCTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAGATGGCTTAAGCCCGGGAGTTCCAAGACCAGCCTGGGCAACAGAAAGACAACAAAAATACCCCCAAACCCCCCCGTCTACCAGCATCCAATCTGGGACCTCAGGTTCCTGTCCTTGGCGTGCCTTTTCAGTCTCCTTTAATCTAGAACAGTTCCCCTGCCTTTCTGAGCTGTTTGTGAAGTTCACAGTTTTGAACAGTGCAGGGTAGTTCCATTGTATTATTACTATTATTTTCAAGACAGGGTCTTGCTCTACCGTCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTTACTGTACCTTCCGCCTCTTGGTCTCAAGCGATCCTCCCAGGTAGCTGGGACTATAGGCGCAGGCCAGCACACCTGGCTAATTTTTGCATTTTTGGTAGAGGTGGCGTTTTCCTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCTTCTCAAAGTGTTGGGATTATGGGCGTGAGCCACCGCGTCTGGCCGCGATTTTATTATAAACATTAAAAATACTAGCTTTTAGGAAAACGATATTAACTGCCTGGTGACCAGCCCACCAAAGCCTGCTTTAGAGTTGACGGCCTCAGGAGTCCTCACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTAGACCTGCCTTAGACTTGCCTTAGACCTGTGTCAGGCTGCAGCTGCGACAGCTCAGGGAAGCTGTGGGGAGATGGCAACCCCAGGATGTTGCTCTCAGGAGTGTCAGCAGGCCATCTTAATGGGGGGCTGGGCCAGAGCCTTGGGGTGCTCCCTCTGTGGGGCTGGGGACGTCTTGTCTCCATGGACATTCCCTCTTGCCAGCCATCGCCATCTGGCACCTGGCTCAGCTTCCCCCAAGCCAAGGTAAGCCCGACAGCATTTCCACCCCAGTGTTGGCTGGGAGCCTTTTCCTAGTTTGTCCTCATCAGACCTAAGCTGGGGTGCAGTTTGCTAGTGATCACATTTTAGCAGGACACCGTCAATCGTAAGTGTACCCAGAGGAGATTTATAAGGACAAAGCCTGAAGCCAGGTCACATGGGGAAGAGTTAGCTACAAAACTGGCCACTTAATCTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGG
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GGCCCTTGGGCTCATGAGGCCCTAGGGCACCCAGGTTTGGGGGTGCCGAGGGCAGGAAAAAAGGCCTCATGGCGCGCAGGCCTCAGCCGCTTGCGGGTTGCCCCGGGCTTGCGGATGGCAGGAGTGGGCCGCTGGGGAGAAAGCAGTGCTGACAGGAAGTGGCTTTTTATCCTGCAGCAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAGCTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGGAGACCCCTTCCAGGGTTTCCAAAAGCAATGAGGTGGGTTTAGGGGCCTCCAGGGTGCTCCTTGATGAGGATAGACCGGGGCAGGCTGCGTAAAGACGTCGGGGCAGACGTCGGGAGAGGTCTGGGCCAGGCATCCGGGACCTGGGTCCCAGCCGGCTCTCCGCACTCTGTGACCCTTTGATGGAGTTTGGATTATTTCCTTAGGAGGCATTCTGGGGGCCCCGAGCCCACACCCACAGTGTCTAGTTCTCTGGAAGGACTTCTGGGACCGGCGCACAGTCGCCCTCGTGGCTGAGGTTGATGACAGGGAAAAAGGCACAGGGCAGGAGCCGCCAGGGCAGGAGCCGTGGGGGGAGTTGGAGAAGCCCTGTCCCAGCCTCCCGCTGCCCTGCGAGCGGCACAGTGAGAAGCGCCTCCCACACGGGCCGTGTTCCTGCCCAGGGATGCCCGCTAGAGACTCAGCGCCCTGGGTGTTTACTGGGGGCAGGTCCTGTCAGCGCCCTCTGCCAGGCAGGTACCTAAATCCCCGACTCCCAGCAGCAGAGCGGGTGCTCACGTCAACCACGTTCTTCCTACAAATGGCCTAGGTGCAGGGACCGACCTGACCACTAGAGAAAGTGTCACTGTGGCAAGGGAACTTCACCAGCCAAGGGCCAACCTTGCCAGCCGGTGGCCTCAGGCCTGCTGGTTACTCTCTTTTGCAAAGGGGTCTTGGTTCTTGTGAGTGGGACCATTGGGTCAAAGGGCAGGGAGGTTTCTGTGGTTCTCATTCGGTCCTGCTTCTGCCCTCCAGACAGATGGATCAGCTGCCAGGGGGGCCCCAGCCATCCCAGCACAGTAGGCGGTCAAGGTGCACTTGGGGCAGCCAGCAGGGCAGAGGGGAGGGGAGCTTGACCCAGGCTCTGATGGGCAGAGGGAACCCGTGCAGGGTGTGGGGGCAGTATGCAGGCAGGCGCGGAGGGGAGAGCCAAGCAGCCAGGCCTGCCAGGCAGAGTTGGGGTGACTGGAGAAGGGCCGTGTCTGCCTGTGGCCAGAGGCCACCCAGGACCTGGACAGATGCACCCACCATTGTCCCTGCAGTGAGGCTGTGGAAGGGCTTGGTGTGGTGGGATGAGGCCAGACCCTGGAAACTGGAGGTTAAGGGAGCTGTAGGGGGGCAGGTGTGGGAACTGAGCATCCGAGCAGGTCGTCTGGGACTCCAGCAGAGCTCTGGGCAGCAGCAGGGATGGGGCCGAGGCCCGGTCTGCATTGAGCTCAGTGCTTGCACGCCCAGGTGGGCAGTCTCTCATTTTTGGAACAGCAGTCTCTCCTGACCCCCTCCACTGAGACTGCTTTTGCTGGGGCCCCCAGCAGTCCCCCAGTGGAACTCCACGGGCAGTTCCGAGGGCTCCTCTCACCTGGCCCCAGCACTGCGGGATGCAGGCGACCCCATCCTTTTCTCGGACCACCCCCTTCCCCTGGCTTCCAGGTCTCCTTGCCATCTGTACTTGGTCACCTGCTGGGCCCCTGCATTGAAGCAAACACGTCTTAAGCAAAGCTCCTCACCTGCTGCTCCCACCTGGCCCCCTGCAGTTGTCCTCGTGTCTGTTGACGGTGCCTCCACCCTGCCGCCTGGCATCAGCTCGCAGTCACAGGGTGTTCAGAGCCGACCCCCACCCCCCGCCCACGCCCTGCGCATAGCCCCTGCCGTCCCCCCGTTCGTCCTCCCTGAGTCTGCTCTTTCCCCGTGCCAGGCAGGGCCCGGGCGGCCAGCGAGCAGGCGCGGCAGCTGGAGAGTGAGCGCGAGGCGCTGCAGCAGCAGCACAGCGTGCAGGTGGACCAGCTGCGCATGCAGGGCCAGAGCGTGGAGGCCGCGCTCCGCATGGAGCGCCAGGCCGCCTCGGAGGAGAAGTGAGTCAGCGGGGGCGGGGCCGCACCGCAGGGTCTGTGGTTCTACACTTGATCTTAGCCGAAAGGCTGAGAAGTGTCGGGTCCATGGTTCTTTCTGCCTTCTGAGGACTCCTTCAGATTCTGCCTGTGGCTGTGGGCCCATTCTGTCCCTTAGCCTTGCTAACGGTAGAGGCGACCATGATGACACCCGGTTTGTCTTTGATACAGTCATGCCATCTGCTCTCCAGACCACGTTTCACTGCGTGTCCACACGTGGCCTTTTTTGTAGTTTTTTTTTCCTAGCCACTAGGTCATCAGGGGACTTGTCCTTTAAAACCCCTTCTAGGCCAGGTGCTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAAGTGGGTAGATGGCTTAAGCCCGGGAGTTCCAAGACCAGCCTGGGCAACAGAAAGACAACAAAAATACCCCCAAACCCCCCCGTCTACCAGCATCCAATCTGGGACCTCAGGTTCCTGTCCTTGGCGTGCCTTTTCAGTCTCCTTTAATCTAGAACAGTTCCCCTGCCTTTCTGAGCTGTTTGTGAAGTTCACAGTTTTGAACAGTGCAGGGTAGTTCCATTGTATTATTACTATTATTTTCAAGACAGGGTCTTGCTCTACCGTCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTTACTGTACCTTCCGCCTCTTGGTCTCAAGCGATCCTCCCAGGTAGCTGGGACTATAGGCGCAGGCCAGCACACCTGGCTAATTTTTGCATTTTTGGTAGAGGTGGCGTTTTCCTATGTTGCCCGGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCTCCTGCCTTGGCTTCTCAAAGTGTTGGGATTATGGGCGTGAGCCACCGCGTCTGGCCGCGATTTTATTATAAACATTAAAAATACTAGCTTTTAGGAAAACGATATTAACTGCCTGGTGACCAGCCCACCAAAGCCTGCTTTAGAGTTGACGGCCTCAGGAGTCCTCACACAGCCTTGGAAGACCCCATTCCAGGCCTGTGATGCGAGGGAGGGAAGGAAGGGGGTAGAGTTGGAAGCAGGCAGCACCGTGGCTGGACTGGCATGAGGTGGTTTCTCCAGCAAAAGCTCCCTTTCCTCAGGAGGAAGCTGGCCCAGTTGCAGGTGGCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGTGAGCGGAAGCGAGTGAGTGCGACCACTGGGGCTCTAGGGCTGGCCTTGCCTCTTCCTCTCCCCGTGGCCCTGAACCTTGAGAATGGGTAGACCTGCCTTAGACTTGCCTTAGACCTGTGTCAGGCTGCAGCTGCGACAGCTCAGGGAAGCTGTGGGGAGATGGCAACCCCAGGATGTTGCTCTCAGGAGTGTCAGCAGGCCATCTTAATGGGGGGCTGGGCCAGAGCCTTGGGGTGCTCCCTCTGTGGGGCTGGGGACGTCTTGTCTCCATGGACATTCCCTCTTGCCAGCCATCGCCATCTGGCACCTGGCTCAGCTTCCCCCAAGCCAAGGTAAGCCCGACAGCATTTCCACCCCAGTGTTGGCTGGGAGCCTTTTCCTAGTTTGTCCTCATCAGACCTAAGCTGGGGTGCAGTTTGCTAGTGATCACATTTTAGCAGGACACCGTCAATCGTAAGTGTACCCAGAGGAGATTTATAAGGACAAAGCCTGAAGCCAGGTCACATGGGGAAGAGTTAGCTACAAAACTGGCCACTTAATCTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATG
|
pathogenic
| 342,473 |
Does the variant on chromosome X at location 154564361 affecting gene IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Ectodermal_dysplasia_and_immunodeficiency_1', 'Immunodeficiency_33', 'Incontinentia_pigmenti_syndrome']
|
CTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCAGGGCCACTCTTTCATCCTTCTCAGTTCTTCTCAGCCAGCCTCGCCCTGGGCTGACGAGGCTCCGTCAGCTCCCCTTGCCCGTCCTTAGGGAATGCAGCTGGAAGATCTCAAACAGCAGCTCCAGCAGGCCGAGGAGGCCCTGGTGGCCAAACAGGAGGTGATCGATAAGCTGAAGGAGGAGGCCGAGCAGCACAAGATTGTGATGGAGACCGTTCCGGTGCTGAAGGCCCAGGTGAGGGCCCTCCTCTCTGACCCACCCTGGCACTGGGACCTGGAGAGTCTCTTTGGCGTCTTTTTTTTTTTTTTTGCTTTTGCTTTTTGAGATTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCACTAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAACAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCGCCATGCCCGTCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCCAGCTGGTCTCGAACTTCTGGCCTCAGGTGATCTGCCCACCGCAGTCTCTCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCTTTGGCATCATTTTGTAGTGGCCTTTCGTAAGCTTCTGAGCCACTTGTGCTGCTCCTTAGACCTCTCGGTGAGCTTGGCATTACTCGCCGACGTATCTGTTTCCTCTGCGCCGCTGGGGGCTCTGGGAGGACAGCAGTGGGTTCTGCTTTGTTCCTGTGGTGCCTGGCGCAGTGCCTGGTGGGTGGCTGGCTTGTGGCGGGCACATCCCTTTCTGTTGGATTTGCCAGGCGGATATCTACAAGGCGGACTTCCAGGCTGAGAGGCAGGCCCGGGAGAAGCTGGCCGAGAAGAAGGAGCTCCTGCAGGAGCAGCTGGAGCAGCTGCAGAGGGAGTACAGCAAACTGAAGGCCAGCTGTCAGGAGTCGGCCAGGTGGGCCTCTGAGAGCGTGCCCGTGTGAGCAGTGGGTGCGACACTGGGGGGTCGCCAGTGGTGACCCCGCAGTGGGTGCGACACTGGGGGGTTGCCAGTGGTGACCACAGGAGACGGATGGCTCCTGGTGTTCTGGGTTAGGGCTCACTGTGGTCCCTCTCCTCTCACCTGAGCTTCCAAGAGCTGCTTTGACACTAGTCCAGCCAAGGAGCTTTACAGAAATGCGTGGCTTGACTGGACGGTTTCTGTTTCCAAAGGATCGAGGACATGAGGAAGCGGCATGTCGAGGTCTCCCAGGCCCCCTTGCCCCCCGCCCCTGGTGAGTGAGCGAGAACTGGGCCTGCGGGAGGAGGTGGGTGGGGAGGGCAGGTGCTGCGCCGCGGGAGGTCACAGTTCGACCTTCCTGTTGCTCTCTGGAGACTTGACGGCGGGAGCTCGTGTAGGCCACCCCATCGGTAGCCCACCCCCTTCCCCGAGGCTAAGGGAGGCATGCCGTGGTAGCGGCGGCTCCTGGTCTTACATGAGTGGCCTGTGAGACCAGGCCTGCCATTGACAGTCCTGCCAAGTCTCCGTCCCCCTCCATCCTCCCCTTCCCTCTGACTCTTCTCTTTTCCCAGCCTACCTCTCCTCTCCCCTGGCCCTGCCCAGCCAGAGGAGGAGCCCCCCCGAGGAGCCACCTGACTTCTGCTGTCCCAAGTGCCAGTATCAGGCCCCTGATATGGACACCCTGCAGATACATGTCATGGAGTGCATTGAGTAGGGCCGGCCAGTGCAAGGCCACTGCCTGCCGAGGACGTGCCCGGGACCGTGCAGTCTGCGCTTTCCTCTCCCGCCTGCCTAGCCCAGGATGAAGGGCTGGGTGGCCACAACTGGGATGCCACCTGGAGCCCCACCCAGGAGCTGGCCGCGGCACCTTACGCTTCAGCTGTTGATCCGCTGGTCCCCTCTTTTGGGGTAGATGCGGCCCCGATCAGGCCTGACTCGCTGCTCTTTTTGTTCCCTTCTGTCTGCTCGAACCACTTGCCTCGGGCTAATCCCTCCCTCTTCCTCCACCCGGCACTGGGGAAGTCAAGAATGGGGCCTGGGGCTCTCAGGGAGAACTGCTTCCCCTGGCAGAGCTGGGTGGCCGCTCTTCCTCCCACCGGACACCGACCCGCCCGCCGCTGTGCCCTGGGAGTGCTGCCCTCTTACCATGCACACGGGTGCTCTCCTTTTGGGCTGCATGCTATTCCATTTTGCAGCCAGACCGATGTGTATTTAACCAGTCACTATTGATGGACATTTGGGTTGTTTCCCATCTTTTTGTTACCATAAATAATGGCATAGTAAAAATCCTTGTGCATTAGTCGTGCGTATCTTTGGCATAGATTCTGAGAAGTGACACCACTGAGCATGGGCGATGGCGTAGATGGTACCTGAGCCCCCTTCCTCCTTGGAGCTTGGTTTCCCATCTCTCCCCACCCCCTATTTCCCTAGCCTTGCCAAGGAGGAGGTGGGAAAGCCCGTTTGGGTTTTTGTCATTCGCTAGGCCATGCAGTTCTCTGTTAAGAGTGAGCTTAAACATCTTTCCTGAGGCTTTAAGGACCTTTTTTAGTTCTGCTTCTGAATGGGCTGCTCATATCATATATATATATGTATATGTATAGTTGTGTATATGTATGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTCTCGCCCAGACTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGCGTTCAACCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCTGCCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCAGCACTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCCGCTGGGCTGCTCATATCTTTTATCCGTTTTTCTACTGGGTTATCTTTTGTTGCTCAGCTTTTAGAAACTCTTTGTCCATGAGCAGGATTGGGTTTGTGGCTGTGATAGAAATTGCAGATATCTTTTCCTGCTTTGACCTCGCTACTAGTGTTTCTTTGTTTTTTGTTTTGAGATAAGGTCTCTGTCACCCGGGTGGGAGTGTAGTGGCACAATCAGAGCTCACTGCAGCCTTGACCTCCTGAGCTCCAGCAGTCCTCCTGCCTCGGCCTTGCGAGTAGCTGGGATCACAGGCGTGCGCCACCACACCCTGCTAAACTACTGGTGCTTCTCAGCCTCGAAGTTTTTTTTTCTTTATGTAGTCACATTTATCCATTTTTTCCCCCTTTTACTGCTTTGACTTTGGAGTCGTCGTGACCACCTTGTGGTCTGTGGGAGGGATGCTTCACACATGAGCACTTTTCTTTTTCTAACACCGAAGCGTGCTCTTGTCTTCACCAAGAGTGTTGTTGCCCAGTGTGACTGGTGATGGCTGTTTCATCATATTCCAGAAGTTTGTGATGCCATTTCCCACACTGGCCCCAATTAGGAAGA
|
CTCTGGAGGGGGGCGTTGGTGGGGTGTGTCTGTGTGTGTCTCAGGGGGCTGGAGATGCCTGCGTGGGAGGAGTGCACCTCTGACCAGGTGGCAGAGTGGAAGGACTGAGGGCTCTCAGCTGAGCTGTGCACATGGCGGGCACAGGACCGGCTGGCTGTGAGTGGGTGTGGCCTGTGGCCTGTGAAGGGTGGGAGGAGGGCTGTGGAGCTGGGGATTCTGGGAAGGGAATGTCGGCCCAGCTGGGAGGTTGTACCAGATGACCTCAGCGGCCTCTTCAGTCCTGAAAAAAACCTCAGCATCTCCTCTGTCGTTTTGGGCCGTGACAGGACGCAGCCATCTCCCTGTGCACGCTGAGATCCTGCAATGGGCCCTCAAATCAGGGGCTGGCATCACCCAGCCTGGTCAGCCAGGGCCACTCTTTCATCCTTCTCAGTTCTTCTCAGCCAGCCTCGCCCTGGGCTGACGAGGCTCCGTCAGCTCCCCTTGCCCGTCCTTAGGGAATGCAGCTGGAAGATCTCAAACAGCAGCTCCAGCAGGCCGAGGAGGCCCTGGTGGCCAAACAGGAGGTGATCGATAAGCTGAAGGAGGAGGCCGAGCAGCACAAGATTGTGATGGAGACCGTTCCGGTGCTGAAGGCCCAGGTGAGGGCCCTCCTCTCTGACCCACCCTGGCACTGGGACCTGGAGAGTCTCTTTGGCGTCTTTTTTTTTTTTTTTGCTTTTGCTTTTTGAGATTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCCACTAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAACAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCGCCATGCCCGTCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCCAGCTGGTCTCGAACTTCTGGCCTCAGGTGATCTGCCCACCGCAGTCTCTCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTCTTTGGCATCATTTTGTAGTGGCCTTTCGTAAGCTTCTGAGCCACTTGTGCTGCTCCTTAGACCTCTCGGTGAGCTTGGCATTACTCGCCGACGTATCTGTTTCCTCTGCGCCGCTGGGGGCTCTGGGAGGACAGCAGTGGGTTCTGCTTTGTTCCTGTGGTGCCTGGCGCAGTGCCTGGTGGGTGGCTGGCTTGTGGCGGGCACATCCCTTTCTGTTGGATTTGCCAGGCGGATATCTACAAGGCGGACTTCCAGGCTGAGAGGCAGGCCCGGGAGAAGCTGGCCGAGAAGAAGGAGCTCCTGCAGGAGCAGCTGGAGCAGCTGCAGAGGGAGTACAGCAAACTGAAGGCCAGCTGTCAGGAGTCGGCCAGGTGGGCCTCTGAGAGCGTGCCCGTGTGAGCAGTGGGTGCGACACTGGGGGGTCGCCAGTGGTGACCCCGCAGTGGGTGCGACACTGGGGGGTTGCCAGTGGTGACCACAGGAGACGGATGGCTCCTGGTGTTCTGGGTTAGGGCTCACTGTGGTCCCTCTCCTCTCACCTGAGCTTCCAAGAGCTGCTTTGACACTAGTCCAGCCAAGGAGCTTTACAGAAATGCGTGGCTTGACTGGACGGTTTCTGTTTCCAAAGGATCGAGGACATGAGGAAGCGGCATGTCGAGGTCTCCCAGGCCCCCTTGCCCCCCGCCCCTGGTGAGTGAGCGAGAACTGGGCCTGCGGGAGGAGGTGGGTGGGGAGGGCAGGTGCTGCGCCGCGGGAGGTCACAGTTCGACCTTCCTGTTGCTCTCTGGAGACTTGACGGCGGGAGCTCGTGTAGGCCACCCCATCGGTAGCCCACCCCCTTCCCCGAGGCTAAGGGAGGCATGCCGTGGTAGCGGCGGCTCCTGGTCTTACATGAGTGGCCTGTGAGACCAGGCCTGCCATTGACAGTCCTGCCAAGTCTCCGTCCCCCTCCATCCTCCCCTTCCCTCTGACTCTTCTCTTTTCCCAGCCTACCTCTCCTCTCCCCTGGCCCTGCCCAGCCAGAGGAGGAGCCCCCCCCGAGGAGCCACCTGACTTCTGCTGTCCCAAGTGCCAGTATCAGGCCCCTGATATGGACACCCTGCAGATACATGTCATGGAGTGCATTGAGTAGGGCCGGCCAGTGCAAGGCCACTGCCTGCCGAGGACGTGCCCGGGACCGTGCAGTCTGCGCTTTCCTCTCCCGCCTGCCTAGCCCAGGATGAAGGGCTGGGTGGCCACAACTGGGATGCCACCTGGAGCCCCACCCAGGAGCTGGCCGCGGCACCTTACGCTTCAGCTGTTGATCCGCTGGTCCCCTCTTTTGGGGTAGATGCGGCCCCGATCAGGCCTGACTCGCTGCTCTTTTTGTTCCCTTCTGTCTGCTCGAACCACTTGCCTCGGGCTAATCCCTCCCTCTTCCTCCACCCGGCACTGGGGAAGTCAAGAATGGGGCCTGGGGCTCTCAGGGAGAACTGCTTCCCCTGGCAGAGCTGGGTGGCCGCTCTTCCTCCCACCGGACACCGACCCGCCCGCCGCTGTGCCCTGGGAGTGCTGCCCTCTTACCATGCACACGGGTGCTCTCCTTTTGGGCTGCATGCTATTCCATTTTGCAGCCAGACCGATGTGTATTTAACCAGTCACTATTGATGGACATTTGGGTTGTTTCCCATCTTTTTGTTACCATAAATAATGGCATAGTAAAAATCCTTGTGCATTAGTCGTGCGTATCTTTGGCATAGATTCTGAGAAGTGACACCACTGAGCATGGGCGATGGCGTAGATGGTACCTGAGCCCCCTTCCTCCTTGGAGCTTGGTTTCCCATCTCTCCCCACCCCCTATTTCCCTAGCCTTGCCAAGGAGGAGGTGGGAAAGCCCGTTTGGGTTTTTGTCATTCGCTAGGCCATGCAGTTCTCTGTTAAGAGTGAGCTTAAACATCTTTCCTGAGGCTTTAAGGACCTTTTTTAGTTCTGCTTCTGAATGGGCTGCTCATATCATATATATATATGTATATGTATAGTTGTGTATATGTATGTGTGTGTGTGTGTGTGTGTGTGTATTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTCTCGCCCAGACTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGCGTTCAACCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCTGCCACCACGCTCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTACCTGGCCAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCAGCACTTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCCCGCTGGGCTGCTCATATCTTTTATCCGTTTTTCTACTGGGTTATCTTTTGTTGCTCAGCTTTTAGAAACTCTTTGTCCATGAGCAGGATTGGGTTTGTGGCTGTGATAGAAATTGCAGATATCTTTTCCTGCTTTGACCTCGCTACTAGTGTTTCTTTGTTTTTTGTTTTGAGATAAGGTCTCTGTCACCCGGGTGGGAGTGTAGTGGCACAATCAGAGCTCACTGCAGCCTTGACCTCCTGAGCTCCAGCAGTCCTCCTGCCTCGGCCTTGCGAGTAGCTGGGATCACAGGCGTGCGCCACCACACCCTGCTAAACTACTGGTGCTTCTCAGCCTCGAAGTTTTTTTTTCTTTATGTAGTCACATTTATCCATTTTTTCCCCCTTTTACTGCTTTGACTTTGGAGTCGTCGTGACCACCTTGTGGTCTGTGGGAGGGATGCTTCACACATGAGCACTTTTCTTTTTCTAACACCGAAGCGTGCTCTTGTCTTCACCAAGAGTGTTGTTGCCCAGTGTGACTGGTGATGGCTGTTTCATCATATTCCAGAAGTTTGTGATGCCATTTCCCACACTGGCCCCAATTAGGAAG
|
pathogenic
| 342,476 |
Does the chromosome X mutation at position 154765540 within gene DKC1 (dyskerin pseudouridine synthase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
GCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAACCTGGACAGCATGGTATTGTGCGGAATGCTGTAGGCAGTTGGGACACAGCGTCGAGAGTTTGTGTACTTAAACATGTCTAAGCAGAAAAAGGACAGTAAAAATATAGCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATATGTATATTATATATGTATGTATTATATGTATGTATATTATATATATATAGTACACAAGGTTATAAGTGGTGCACCCGTAGAGGAGGGCACTTACCATGAATGGAGCTTGCTGAGCTGGAAGTTGCCCTGGTTGAGTCGGTGACTGAATGTGAAGGCCTCAGACATTACACTACTGGAGACTTTATAATCTGTACACCTAGGCTACACTAAATTTATAAAAATATATTTTTCTTCAGAATAAATCAACCTTAGCTTACTGTAACTTTATAAACTTTTTACTTCGACTGTTGTAATAATACTTAGCTTAAAACAAACACATTATTTAGCTGTACGTAAATATTTTCTCTGCTTATCTCCTTATTTATAAGTTTTCTATTTTAAAATTTTTTAATTTTTTTCTTAAAAAATTTTTTTTTGTTAACTAAGACACAAACACAGCACACACAGTAGCCTTGACCTACACAGGGTCAGGATCATCAAGACATCACTAGGAGATAGGAATTTTTCAGCTCTGTTATAATCTTATGGGGGCCACCATCACATACGCAGTCTGTACTTGCAAAACATTATGTGGCATGTGACTGTAATTGTAGACCTAAAATCCATTTCCTACCTGCCCTAATTTCGGTCTTTATTTTAAACCCTTGTTTCATTTATTCTTGGGGAAAATTCCCAAATCCTGTGTTTGTTTTTTTAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGTGAGTAGTAATGTGTTTGACTTCACTTTGACTAAAAAGAAAGTTTACTTAAATAACAAACTAAAGGAAAGAAGTGTTTTTAAAGGTTTCCAAGGAATGGGCCAGCATTGGTAGTCATTGTGTAGATTCGAAAAAGCACTGAAATGACACAGCCCCAGACAGTCCAAGTGTCCTTCAGGCATAGCTTACTAAATGGTGCTGGCCTTACCAACTGCTGTCTCTGAATTTGTCTTCCTTATGCCACCCACAGACCCGCCATCCCCCTTTCTCTTTAAATGTTTGGACCCATCTTAGTGACATTTCACTTCCCCTCTGTACTCCTGGTTCATTTCTTCTCTCTCTTTCCCTTGGAGGTCCCAGTGAAAAGGCATAGGAAGCCTTGTTTTCTGTTTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTTCAAAATCGGGTGGGAAGTTTAATAGGTTATATTTCTGTCCTGTCGAAGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGGTATGTGGTTAAAATCGTGCATCAGATGAATGCCTGCTTTTACGTTATTTCCAAGTGTTAAACAATTGATTGAGAATGCTTACTGCTGGCATCCTTGACTTTGGGAAGTGCCCACTGATACAGTTTAAAGCAGGATTCCTTAAGGTATCTGAAATGAGAACCAAGTTTTTAAAAAATTGGCAGTGCACTCAACACTGTTGTAGAACACATGTCCCCACAATGTTAAATTGCTGAGTTTGTCAACAGTTCTCAGTTTTTGTACTTAGTCCATCTTGCAGACCTATGCCAGTTTGTGGGCCACATAGTGGTACTGACTCTTTTTTTACATGTGCTCACGACATGGTATTTTGTTTTGTGTTGTGTCGTTGCTTTGTAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGTAAGTGTTGGGAGGAGGCACTGTGCAAACTTACTTTCTTTTGAAAATGCTTTCACATCAGCTATTCAGGAAGGCAGTGGCATGCCAGAATAGCTTTGTCTTGAATATATAACCTGTACCCGCAGTGAATTATTTTTCTTTTTAACTTTTCAGATTTGTTGTTTCACTGGAGCATTAAGAGTGGGTGATACATTAATTTTTTTTTTTTCCATTCCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGTATGTGGGAGAGGGAGGGAAGGACTGGCTAGAGTGAAAAGCTTTCTGTATTTCCCTTCTATGTTTTGTCTGCTGGAAACTATTTCTTCATTAAGAAAAAAAAAAATCCTAAAGCAAGGATATTGTTTTGGTTTCTGTGTACGTTCTGTCCCCTGCCAGATCTTGGTGGTCCGCGCTTTTTGGAATTCCACATACTAAGCATGTATTCATCAAGCTGACTGGATCCATTTGTCCGGGTTCAGCTCTCAGCTTGTCACTCCAGGCTTCTCACTCTGTGCTACCGCTTCTGCCTAAAGTATCCTTCGTTCATTTTTATCTGAGAAAAGCCTGCTTATCTTGCAAGGCTTTTTCCACGCAGCTTCTACACTGAGTACTCCCAACTGTCCCTGTTAGTACATTGAATTCCCAGTGAGAAAGTGTCTTCATTCTTTCCCACATCATCACCATGAAATCTCTCTTAATGCAAATTTTATAGAAACACAAGGTCAAACTGCCGCTTTTCCTGCTGTGCAAAATGGGAGTGACTGAGCATATAAGAAATATGGAAAACAGAAAACTCAGTGGCCACACCTGACTACTCTTTTGTCATTTTTCAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGTAAGTCTGCAATTGTAGGGAGGACACCCTTTGTTGACTTGGATCTCTGAGCCCCTAAACATCTGGAGATGGGTTAGCTGTCCTGACTGACTCCTTTTGTCCCCTTTTCAGTCGGCTGCTGCAGCCAGCCTGGACCAGTGACTGCACATGTACATTCTGATGAGGTGTTTGTTTTCATTTGTGTTTGTTCTTAGGCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGTGAGTCATTAGGCCTGTGAGTGGGTATGAACACATTCTTCAGGATTCTGTTCTCTTATTAAAAGTAGATGCCCTTGAAGTTGAAGACTTTCTAAAACCTGCCCTACAGCTGGGATATTGTCTGTGGGCGATAGTTTTTGTTATCTTTTGTTGAAAAAGTGAACAGTGCCTAGTAAAGTGAGATGGCTTTTACACCTTTTATGAT
|
GCGCTTCTGTGGGATGTTTAAGCTCTGCCATAGCCACGTGGTGAACCGGAAGGGAAGCCGACACGTGCAGTAGCCTACAGTCAGTTACCCAGCCATGGGACCCATACATTTGGCCTTACACACCTTGTTTTCTCGCTTACCTACGGATATACGTTCTAAGAAATGGGTCGTTAGGCGATTTCATCATTGTGTGAACATCAGAGGGCTCTTACACAAACCTAGGTGGCATAGGCTACTACACACCTAGGCTGTATATGGTGTAGCGTATGGCTCCTAGGCTTCAAACCTGGACAGCATGGTATTGTGCGGAATGCTGTAGGCAGTTGGGACACAGCGTCGAGAGTTTGTGTACTTAAACATGTCTAAGCAGAAAAAGGACAGTAAAAATATAGCACAGGGCCGGGCGCGGTGGCTCAGGCCTGTGATCCCAGCCCAGGCTGGCGGATCACCTGCGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTTAGGTGGGCGTGGTGGTATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAGAAGGAGGTTGCAGTGAGCCGAGTTTCTGCCACTGCACTCCAGCCTGGGGAAAGAGTGTGACCGTCTCAAAAAAAAAAAATTATATATATATATAAATATGTGTGTGTATATATGTATATTATATATGTATGTATTATATGTATGTATATTATATATATATAGTACACAAGGTTATAAGTGGTGCACCCGTAGAGGAGGGCACTTACCATGAATGGAGCTTGCTGAGCTGGAAGTTGCCCTGGTTGAGTCGGTGACTGAATGTGAAGGCCTCAGACATTACACTACTGGAGACTTTATAATCTGTACACCTAGGCTACACTAAATTTATAAAAATATATTTTTCTTCAGAATAAATCAACCTTAGCTTACTGTAACTTTATAAACTTTTTACTTCGACTGTTGTAATAATACTTAGCTTAAAACAAACACATTATTTAGCTGTACGTAAATATTTTCTCTGCTTATCTCCTTATTTATAAGTTTTCTATTTTAAAATTTTTTAATTTTTTTCTTAAAAAATTTTTTTTTGTTAACTAAGACACAAACACAGCACACACAGTAGCCTTGACCTACACAGGGTCAGGATCATCAAGACATCACTAGGAGATAGGAATTTTTCAGCTCTGTTATAATCTTATGGGGGCCACCATCACATACGCAGTCTGTACTTGCAAAACATTATGTGGCATGTGACTGTAATTGTAGACCTAAAATCCATTTCCTACCTGCCCTAATTTCGGTCTTTATTTTAAACCCTTGTTTCATTTATTCTTGGGGAAAATTCCCAAATCCTGTGTTTGTTTTTTTAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCCGTGAGTAGTAATGTGTTTGACTTCACTTTGACTAAAAAGAAAGTTTACTTAAATAACAAACTAAAGGAAAGAAGTGTTTTTAAAGGTTTCCAAGGAATGGGCCAGCATTGGTAGTCATTGTGTAGATTCGAAAAAGCACTGAAATGACACAGCCCCAGACAGTCCAAGTGTCCTTCAGGCATAGCTTACTAAATGGTGCTGGCCTTACCAACTGCTGTCTCTGAATTTGTCTTCCTTATGCCACCCACAGACCCGCCATCCCCCTTTCTCTTTAAATGTTTGGACCCATCTTAGTGACATTTCACTTCCCCTCTGTACTCCTGGTTCATTTCTTCTCTCTCTTTCCCTTGGAGGTCCCAGTGAAAAGGCATAGGAAGCCTTGTTTTCTGTTTAAAAGGCATACATTTCCATGGCAGTAATGGAATTGTTCAAAATCGGGTGGGAAGTTTAATAGGTTATATTTCTGTCCTGTCGAAGGAAATACAACACGCTGAAGAATTTCTTATCAAACCTGAATCCAAAGTTGCTAAGTTGGACACGTCTCAGTGGCCCCTTTTGCTAAAGGTATGTGGTTAAATCGTGCATCAGATGAATGCCTGCTTTTACGTTATTTCCAAGTGTTAAACAATTGATTGAGAATGCTTACTGCTGGCATCCTTGACTTTGGGAAGTGCCCACTGATACAGTTTAAAGCAGGATTCCTTAAGGTATCTGAAATGAGAACCAAGTTTTTAAAAAATTGGCAGTGCACTCAACACTGTTGTAGAACACATGTCCCCACAATGTTAAATTGCTGAGTTTGTCAACAGTTCTCAGTTTTTGTACTTAGTCCATCTTGCAGACCTATGCCAGTTTGTGGGCCACATAGTGGTACTGACTCTTTTTTTACATGTGCTCACGACATGGTATTTTGTTTTGTGTTGTGTCGTTGCTTTGTAGAATTTTGATAAGCTGAATGTAAGGACAACACACTATACACCTCTTGCATGTGGTTCAAATCCTCTGAAGAGAGAGATTGGGGACTATATCAGGTAAGTGTTGGGAGGAGGCACTGTGCAAACTTACTTTCTTTTGAAAATGCTTTCACATCAGCTATTCAGGAAGGCAGTGGCATGCCAGAATAGCTTTGTCTTGAATATATAACCTGTACCCGCAGTGAATTATTTTTCTTTTTAACTTTTCAGATTTGTTGTTTCACTGGAGCATTAAGAGTGGGTGATACATTAATTTTTTTTTTTTCCATTCCAGGACAGGTTTCATTAATCTTGACAAGCCCTCTAACCCCTCTTCCCATGAGGTGGTAGCCTGGATTCGACGGATACTTCGGGTGGAGAAGACAGGGCACAGTGGTACGCTGGATCCCAAGGTGACTGGTTGTTTAATCGTGTGCATAGAACGAGCCACTCGCTTGGTGAAGTCACAACAGAGTGCAGGTATGTGGGAGAGGGAGGGAAGGACTGGCTAGAGTGAAAAGCTTTCTGTATTTCCCTTCTATGTTTTGTCTGCTGGAAACTATTTCTTCATTAAGAAAAAAAAAAATCCTAAAGCAAGGATATTGTTTTGGTTTCTGTGTACGTTCTGTCCCCTGCCAGATCTTGGTGGTCCGCGCTTTTTGGAATTCCACATACTAAGCATGTATTCATCAAGCTGACTGGATCCATTTGTCCGGGTTCAGCTCTCAGCTTGTCACTCCAGGCTTCTCACTCTGTGCTACCGCTTCTGCCTAAAGTATCCTTCGTTCATTTTTATCTGAGAAAAGCCTGCTTATCTTGCAAGGCTTTTTCCACGCAGCTTCTACACTGAGTACTCCCAACTGTCCCTGTTAGTACATTGAATTCCCAGTGAGAAAGTGTCTTCATTCTTTCCCACATCATCACCATGAAATCTCTCTTAATGCAAATTTTATAGAAACACAAGGTCAAACTGCCGCTTTTCCTGCTGTGCAAAATGGGAGTGACTGAGCATATAAGAAATATGGAAAACAGAAAACTCAGTGGCCACACCTGACTACTCTTTTGTCATTTTTCAGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGGGACCCAGCTTTCTAGGGTAAGTCTGCAATTGTAGGGAGGACACCCTTTGTTGACTTGGATCTCTGAGCCCCTAAACATCTGGAGATGGGTTAGCTGTCCTGACTGACTCCTTTTGTCCCCTTTTCAGTCGGCTGCTGCAGCCAGCCTGGACCAGTGACTGCACATGTACATTCTGATGAGGTGTTTGTTTTCATTTGTGTTTGTTCTTAGGCCCTAGAAACTCTGACAGGTGCCTTATTCCAGCGACCCCCACTTATTGCTGCAGTAAAGAGGCAGCTCCGAGTGAGGACCATCTACGAGAGCAAAATGATTGAATACGATCCTGAAAGAAGATTAGGTGAGTCATTAGGCCTGTGAGTGGGTATGAACACATTCTTCAGGATTCTGTTCTCTTATTAAAAGTAGATGCCCTTGAAGTTGAAGACTTTCTAAAACCTGCCCTACAGCTGGGATATTGTCTGTGGGCGATAGTTTTTGTTATCTTTTGTTGAAAAAGTGAACAGTGCCTAGTAAAGTGAGATGGCTTTTACACCTTTTATGATN
|
benign
| 342,487 |
Variant at chromosome position 154776255, chromosome X, gene DKC1 (dyskerin pseudouridine synthase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
TCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAATTCTGAATGCTCTGGAGAGGAGTTTGAGGCCCTGCTGAGAATACACCAGGGAGGAACCTTGTTCTATTCTTTGTAGTCACCATGCCCGCTTCCAGCATTGACACCATTCTAATGTTGACACCTTGATGTTCCACCAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGGTGAGGGCAGGATGTTTCAGAGCCGGGGTGGGTAGAGACGGCACACTTGCTGCCTTGATGCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAA
|
TCTGTCACCTGGAGTGTCCACAGTGGTCAAGGAGTCTGGTCAAGGGATTGTCTGTTAAGCCACACCGGTGTGAAGAGTGGGTTAGGTGTTGGTGAAGTGAAGAGGGGAGGGGAGAGTTCAGGGCATTGGGAGCAAGCAGCATGTGCAAAGGCAAAAAAGTAGAGTGGCTGCGGTGGGGACGTTATGTCTGCAGAGGCTCTCACTAATAAGCTTTGTGATCTTCAACAAGTCCTGTGTGTGTTGGAGTTAGTGGGCAAATTCTGAATGCTCTGGAGAGGAGTTTGAGGCCCTGCTGAGAATACACCAGGGAGGAACCTTGTTCTATTCTTTGTAGTCACCATGCCCGCTTCCAGCATTGACACCATTCTAATGTTGACACCTTGATGTTCCACCAGGCAAGTCAGAAGAAGCTGATGATCAAGCAGGGCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCTGCCACCTGGAAGCAGGAGTATGTTGACTACAGGTGAGGGCAGGATGTTTCAGAGCCGGGGTGGGTAGAGACGGCACACTTGCTGCCTTGATGCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAANNN
|
benign
| 342,518 |
Variant at chromosome X, position 154776813, gene DKC1 (dyskerin pseudouridine synthase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
GCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGCTCTTGGATGCAGCGAGGCGAGGCCCTGAGCTGTAGCCATATCATGAGCCAGGCATGCAGGGTGGGCCCCAGCCCTGGCTCAGCGACCGGCCTCCACTGTACCACGGGACCCCAGGCTTGGATTTTCTCTCGTTCTAAATATGTGCCCACAATGAGCGCTCCACTAGCTACAACAACCTTAAGGGTGTTTTTCTACATGGGCACTAGCCAGTAGAGCCCTGCAGTGGGGGCAGAGAATGGGGACTCTTCCAGGGCACCAGTGTTTATCATCTGAACACAAGAGAGGCATCTTGTGTTAATGCTGTTGTCCAGGAGCTTAAGTGAAATGGGCCACATTTCTTTTTGTGTGGAAACCCAGAGTTACAAGGTCATTGGCATTTCAACACAGCATTTTTATTGCTTTTGAAGGTTTCCCTAGAGCAGACATCATTCTATTGCACAGATGTGTCATTTTGGCATTATAGAAAGTTGCAGTTAAAAACGCTTTCTCCAAAATAAAAAGACAAATGAAATACCCAGCATATACAGTTGAAGGCAAAGGAGGGCAG
|
GCAGGAGTATGTCAACAACAGGTGAGGATGGGAAGGTAGAGCCCACTTGCCATCTGGACGCAGGAGTACATGGACAACAGGTGAGGAACAGGTGAGCATGGAGGTTGTAGAGCCCAGGGGAGGGGGAGTCACTTGGTTTGGGGCAAACTTGCTAAATGCAGGACCACAGGAACCAGCTCTTCAGCTCCCGTGAGATTTTGGCTGCCCAGGCCAGTTAGGGGTGTGGGCCTGCACGGCAGACAGTTATCCCTTTCTAGTCTGGCTCGTGGGACTCTAGAGGGAGTCAGTCTGCAACAGTAAGTGGTGAGTTCTTCTGTCCAGCGTCAGTATTTTGATGGTGGCTTTAGACTTGCCAGATAACACTACATAACATCAGTACTGCCCTGGAAAGCCATTCAGTGAATTTGACCTATTGCTACCTCTTTTTCAGTGAGTCTGCCAAAAAAGAGGTGGTTGCTGAAGTGGTAAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGAAGGTGAGTGGCATGCTGTCCTCAGTTTGGAATGTGCTTAGGGAGATAATCCTAAGAGGCACTGGCATTCGTCTTACTTTGTGACTGTCCGCAGTCCAGCCATATACGCTAGCATCAGAGGTGCAGCGCATACACAGGTAATGCTGCCTCATACCCTGGGGTGCTTGTTTGGGCTCTGCAGGCTCCTCTGATTTGTATTCTCTGTCCTATCTGCTGGGAGGAGGAATGTGGGCTCAGGAATCAGATGGGCCTCGACTCCTACCTCAGCTATGGCAGCAACACAGTGATGGAATGGGTGGTGGTGTGTGTGTCAATTCTGGCCCCCGCCCTGGGTCAAATGGTAGGACAGATGTGTTGAAATCAGAGGCCATGGCTGTTGGACATTCGAGGCCATACAAAATTCAGCAGAGAGCAGAATTGCATCTTAACCTGGCACCACCCAGTGTTGAAAGAGTCAGTCAAGCATGGGTTGGCAACTCCACCCCATGGAGCTGCTGGCATTAGAGCACAGAATGACAGGTCTGCACTCAGAAACCGGGGGCGGTACTGAGTATCCTGCACAGGCTGTGTGGGAGGAGCTTCTGACTTGTCAGATGTGAATTCCTGCTTTGCCTGCTTTCTGTGAGAGGTCCTTGCAGTCATGAGAGAAACAGCTCCTCCGGGCCTTTCCACCCCAAGCCCCGTGCTGCTGCTGTGCTCCTTCTCTTGTGCCTGCCTCAAGGCTTCTTGGATTTGGGGGATGAGACTGTCTTCAAATCCTCAGTAAACTAAGGCCCTGTCCGGGTTTGTAGTCAGAAAACGTCCTGTTAGATTCAGTTGGGATCTTTCTTGGTGCCTTGCTACCTTTTGACTCACTGAACCTTTCTTGTCCATTATTGCCCAAGATCTAACACTTAACCAATTGCTTTCATCTCAGCGGAAGCGAGAGAGTGAGAGTGAAAGTGACGAGACTCCTCCAGCAGCTCCTCAGTTGATCAAGAAGGAAAAGAAGAAGAGTAAGAAGGACAAGAAGGCCAAAGCTGGTCTGGAGAGCGGGGCCGAGCCTGGAGATGGGGTGTGTGGAAACACGTTCAGGTTCCTTGGGCTGGCTTAGTCCCTGCGTGGGGAAAGAATTACCCAGGTGGTACCAGCTTTGTTACTCTTCTTGGAGGAGCTGTGGCCTGGGGGTGGGATGCCACCGAGTGCCTTTAGTGCTTCCCCATGTTCCTGGAGTGCTTTTGCCCTCCCTGTGGAATGGACAGATAGAGGCACCCGACCTCTACCACTTATACTTAGAGCTCTATTGATGGTGGGTGGAGAGGATGTGTAGGATGGTGATCTGAATGTTTCCACTTCCAAAAGTAGACCACTAGGGTGTCACTGAAAGGTTTACAGAACTTTGTGTCACATGCAGCATTTAACCCAAAATATCCTTACAGGTCCTGAAAAAGGCTTGCTTGACTGTGGACCTTTACCAGATTTCCTTCTGGGAGAGTCATAGCTTTGTTAGTGGATGGTATCTGTGAGCTTTCATTCTCTTTCTTTCTAGGACAGTGATACCACCAAGAAGAAGAAGAAGAAGAAGAAGAAAGCAAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAGCCTTATTGAGAAAACATGTTATAGATCCTTTTGTTGCTGAGAGAGTGGAACATAGGTCCTAGACAGGGTGAAGAGTTCTGGCACATTTTAGCTGCTACTTTGAGACCTCGGTGATGTTACCTGGTGTGGTCATCCCATCTTGTCCTGTTTTAAGGATATGGGTGGTGAAAGATGAAAGAGGCAGAGTTTATCCCAATGACTTCTCTGTTTGAGTTGGGAAGCCTCACCTTCAGACCCAGTAACTGTCCGCAGCTGTCTGCTAGTGGTTGTCTTAACATCGTAGTCCTAGTTTGCATTTTTTAAATCCCCTCTGTTTAAAAGGTTTGTAAAACAAAAACAAAAAACTAAGTCTGCTCAGTGAAATGCTGTAGAACCCTAAATAAGTGGTAGAAGAGTGTCACTGAATTTTGTCTCTGAATTCAGTATAACTGAGTTTTGTCCATGCTGGTGTCTGGGTTATAGGCCTGATGGGCCTGGTAGTTTTCCATCTTGTTCTGGCCTAGAGGTCAGTCCTTTGCACTTCCTCAAAGCTTGTGTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTGTTTTAGGCCTCGTTTACTTTTAAAAAATGAAATTGTTCATTGCTGGGAGAAGAATGTTGTAATTTTTACTTATTAAAGTCAACTTGTTAAGTTTTTTATGTATTCCTGTTGGGTTTTCTTGTTGATCTCATGCTAGCAGAGCAAAAATTGTAAAATATTTTGATTAAAAATCTAGGGACCTTTATGTCCTATTTGAAATGTGATGCTTTTATGTTTGTTTTCTGGTTTTTACATTTTTGTTCTGTATCTTACACAATCCACCTTGGGCCCTGTCATCTGATGTGAGATCAAGTACTCAGAGGCAGTGATTACCACAAAACCACTGATCTCTAGAAGAACAGAGAAGGAGAGGGTTAATGTATTTATACATAGTGGGCCTGGCAGGAGCGGGGGGCAGGGTGAGTCGGGAGAACGAAGCTGAGGGTGGGGACATGCAGGAATCTGAAGGCCTTGGTGACAGATTAGTGGAAGAAAGGTCTAGGGTTGCTTCCGATTTGGTATTAAGAACCAAGAAAGAGGCCGGGTGCAATGGCTCACACCTATAATCCCAGTGCTTTGGGAGGCTGAGGCGGGCAGATCACCCGAGGTCAGGAGTCTGAGACCAGCCTGGGCCAACATGGCAAAACCCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCCTGGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCTGCCACTGCACTCCAGCCTGGCAAAACAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGCTCTTGGATGCAGCGAGGCGAGGCCCTGAGCTGTAGCCATATCATGAGCCAGGCATGCAGGGTGGGCCCCAGCCCTGGCTCAGCGACCGGCCTCCACTGTACCACGGGACCCCAGGCTTGGATTTTCTCTCGTTCTAAATATGTGCCCACAATGAGCGCTCCACTAGCTACAACAACCTTAAGGGTGTTTTTCTACATGGGCACTAGCCAGTAGAGCCCTGCAGTGGGGGCAGAGAATGGGGACTCTTCCAGGGCACCAGTGTTTATCATCTGAACACAAGAGAGGCATCTTGTGTTAATGCTGTTGTCCAGGAGCTTAAGTGAAATGGGCCACATTTCTTTTTGTGTGGAAACCCAGAGTTACAAGGTCATTGGCATTTCAACACAGCATTTTTATTGCTTTTGAAGGTTTCCCTAGAGCAGACATCATTCTATTGCACAGATGTGTCATTTTGGCATTATAGAAAGTTGCAGTTAAAAACGCTTTCTCCAAAATAAAAAGACAAATGAAATACCCAGCATATACAGTTGAAGGCAAAGGAGGG
|
benign
| 342,521 |
Subsets and Splits
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