Table 2 Whole exome sequencing results
Gene | RPS6KA3 | KCNQ1 |
|---|---|---|
Classification | Uncertain significance | Likely pathogenic |
Exon/ Intron | 9 | 13 |
DNA change | c.748G > A | c.1615 C > T |
Protein change | p.Asp250Asn | p.Arg539Trp |
Zygosity | Hemizygous | Heterozygous |
Inheritance | X-linked dominant | Autosomal dominant; autosomal recessive |
OMIM | 300075 | 607542 |
Associated disease | Coffin-Lowry syndrome, Intellectual disability, X-linked 19 | Atrial fibrillation, familial, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome |