SCN5A Chromosome 3
Sodium voltage-gated channel alpha subunit 5
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What This Gene Does
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]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
3p22.2
Ensembl
ENSG00000183873
Associated Conditions (69)
Brugada syndrome
Cardiac arrhythmia
Cardiovascular phenotype
8 conditions
Long QT syndrome 3
Brugada syndrome 1
Atrial fibrillation
Ventricular fibrillation
paroxysmal familial
type 1
Familial isolated arrhythmogenic right ventricular dysplasia
Dilated cardiomyopathy 1E
Sick sinus syndrome 1
Progressive familial heart block
type 1A
Cardiomyopathy
SCN5A-related disorder
Congenital long QT syndrome
Long QT syndrome
drug-associated
+49 more conditions
Key Variants
RS1011460663
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiac arrhythmia, Cardiovascular phenotype
Health Risk
RS1011934257
Conflicting classifications of pathogenicity
8 conditions, 8 conditions
Health Risk
RS1012068196
Conflicting classifications of pathogenicity
Long QT syndrome 3, Brugada syndrome 1, Long QT syndrome 3
Health Risk
RS1057520531
Conflicting classifications of pathogenicity
Long QT syndrome 3, Brugada syndrome 1, Cardiovascular phenotype
Health Risk
RS1057522116
Conflicting classifications of pathogenicity
Cardiac arrhythmia, Cardiac arrhythmia
Health Risk
RS1057523731
Conflicting classifications of pathogenicity
Cardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1
Health Risk
RS1060499900
Conflicting classifications of pathogenicity
Cardiac arrhythmia, Brugada syndrome 1, Cardiovascular phenotype
Health Risk
RS1060499941
Conflicting classifications of pathogenicity
Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia
Health Risk
RS1064793326
Conflicting classifications of pathogenicity
Health Risk
RS111422496
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1E, Ventricular fibrillation
Health Risk
RS1239786884
Conflicting classifications of pathogenicity
Cardiac arrhythmia, Cardiovascular phenotype, Cardiac arrhythmia
Health Risk
RS1251085820
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
All Variants (759)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2062566545 | Health Risk | Pathogenic | — |
| RS2125825662 | Health Risk | Pathogenic | — |
| RS2125826555 | Health Risk | Pathogenic | — |
| RS2125834231 | Health Risk | Pathogenic | — |
| RS2125835214 | Health Risk | Pathogenic | — |
| RS2125835336 | Health Risk | Pathogenic | — |
| RS2125835443 | Health Risk | Pathogenic | — |
| RS2125835467 | Health Risk | Pathogenic | — |
| RS2125835486 | Health Risk | Pathogenic | Brugada syndrome, Brugada syndrome |
| RS2125840793 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2125849694 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiovascular phenotype, Cardiac arrhythmia |
| RS2125849703 | Health Risk | Pathogenic | — |
| RS2125870732 | Health Risk | Pathogenic | — |
| RS2125870810 | Health Risk | Pathogenic | — |
| RS2125871221 | Health Risk | Pathogenic | — |
| RS2125871275 | Health Risk | Pathogenic | — |
| RS2125871836 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiac arrhythmia |
| RS2125881256 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2125901686 | Health Risk | Pathogenic | — |
| RS2125901794 | Health Risk | Pathogenic | — |
| RS2125902923 | Health Risk | Pathogenic | — |
| RS2125905710 | Health Risk | Pathogenic | — |
| RS2125910133 | Health Risk | Pathogenic | Brugada syndrome, Brugada syndrome |
| RS2125910371 | Health Risk | Pathogenic | — |
| RS2125920971 | Health Risk | Pathogenic | — |
| RS2125922727 | Health Risk | Pathogenic | — |
| RS2125931691 | Health Risk | Pathogenic | — |
| RS2125935394 | Health Risk | Pathogenic | Cardiovascular phenotype, Brugada syndrome (shorter-than-normal QT interval), Cardiovascular phenotype |
| RS2471527634 | Health Risk | Pathogenic | — |
| RS2471528577 | Health Risk | Pathogenic | — |
| RS2471528697 | Health Risk | Pathogenic | — |
| RS2471530254 | Health Risk | Pathogenic | — |
| RS2471531691 | Health Risk | Pathogenic | — |
| RS2471544264 | Health Risk | Pathogenic | — |
| RS2471554581 | Health Risk | Pathogenic | — |
| RS2471554597 | Health Risk | Pathogenic | — |
| RS2471558920 | Health Risk | Pathogenic | Cardiac arrhythmia, Brugada syndrome, Cardiac arrhythmia |
| RS2471562505 | Health Risk | Pathogenic | — |
| RS2471573386 | Health Risk | Pathogenic | Cardiac arrhythmia, Cardiac arrhythmia |
| RS2471583750 | Health Risk | Pathogenic | — |
| RS2471600433 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471632438 | Health Risk | Pathogenic | — |
| RS2471632647 | Health Risk | Pathogenic | — |
| RS2471638168 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471638436 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471649491 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471657748 | Health Risk | Pathogenic | — |
| RS2471657838 | Health Risk | Pathogenic | — |
| RS2471658799 | Health Risk | Pathogenic | — |
| RS2471658928 | Health Risk | Pathogenic | — |