rs199473338
This is a variant in the SCN5A gene that changes a proline to an arginine.
▶ClinVar annotation
Brugada syndrome 1 (BRGDA1); Cardiac arrhythmia; Cardiovascular phenotype; Congenital long QT syndrome (RWS); Dilated cardiomyopathy 1E (CMD1E); Long QT syndrome 3 (LQT3); Progressive familial heart block, type 1A (PFHB1A); Sick sinus syndrome 1; Ventricular fibrillation, paroxysmal familial, type 1
View on ClinVar →About SCN5A
The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]
View all SCN5A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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