ClinVar
|
Risk
|
rs41315493(A;A) rs41315493(T;T) |
Alt
|
rs41315493(A;A) rs41315493(T;T) |
Reference
|
Rs41315493(C;C) |
Significance |
Other |
Disease |
Long QT syndrome not specified not provided Brugada syndrome Pulmonary valve stenosis (rare) Ventricular tachycardia Atrial fibrillation Cardiovascular phenotype Long QT syndrome 2 |
Variation | info |
---|
Gene |
SCN5A |
CLNDBN |
Long QT syndrome not specified not provided Brugada syndrome Pulmonary valve stenosis (rare) Ventricular tachycardia Atrial fibrillation Cardiovascular phenotype Long QT syndrome 2 |
Reversed |
0 |
HGVS |
NC_000003.11:g.38592012C>A; NC_000003.11:g.38592012C>T |
CLNSRC |
HGMD UniProtKB (protein) |
CLNACC |
RCV000030444.1, RCV000041632.8, RCV000058811.3, RCV000148837.4, RCV000157493.1, RCV000171770.2, RCV000245882.1, RCV000058810.3, RCV000183135.2, RCV000208349.1, RCV000249083.1, |