ClinVar
|
Risk
|
rs199472776(G;G) rs199472776(T;T) |
Alt
|
rs199472776(G;G) rs199472776(T;T) |
Reference
|
Rs199472776(C;C) |
Significance |
Other |
Disease |
Long QT syndrome Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome 1 Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Short QT syndrome Familial atrial fibrillation |
Variation | info |
---|
Gene |
KCNQ1 |
CLNDBN |
Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome not provided Long QT syndrome 1 Romano-Ward syndrome Jervell and Lange-Nielsen syndrome short QT syndrome Familial atrial fibrillation |
Reversed |
0 |
HGVS |
NC_000011.9:g.2608860C>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000045974.2, RCV000057571.3, RCV000148545.2, RCV000182181.3, RCV000203070.1, RCV000259588.1, RCV000265217.1, RCV000299301.1, RCV000356516.1, |