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 |
|---|---|---|---|
| RS1011460663 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiac arrhythmia, Cardiovascular phenotype |
| RS1011934257 | Health Risk | Conflicting classifications of pathogenicity | 8 conditions, 8 conditions |
| RS1012068196 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 3, Brugada syndrome 1, Long QT syndrome 3 |
| RS1057520531 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 3, Brugada syndrome 1, Cardiovascular phenotype |
| RS1057522116 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiac arrhythmia |
| RS1057523731 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Long QT syndrome 3, Brugada syndrome 1 |
| RS1060499900 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Brugada syndrome 1, Cardiovascular phenotype |
| RS1060499941 | Health Risk | Conflicting classifications of pathogenicity | Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS1064793326 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS111422496 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1E, Ventricular fibrillation |
| RS1239786884 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiovascular phenotype, Cardiac arrhythmia |
| RS1251085820 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS12720064 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Brugada syndrome 1, SCN5A-related disorder |
| RS12720452 | Health Risk | Conflicting classifications of pathogenicity | Congenital long QT syndrome, Long QT syndrome, drug-associated |
| RS1289539591 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiovascular phenotype, Cardiac arrhythmia |
| RS1298844321 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiac arrhythmia |
| RS1308212854 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiac arrhythmia |
| RS1373296470 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiac arrhythmia, 8 conditions |
| RS1375890695 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, 8 conditions, Cardiac arrhythmia |
| RS137854602 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Primary familial hypertrophic cardiomyopathy, Cardiac arrhythmia |
| RS137854603 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Brugada syndrome, Cardiac arrhythmia |
| RS137854605 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 3, Cardiovascular phenotype, Long QT syndrome 3 |
| RS137854609 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 3, Congenital long QT syndrome, 8 conditions |
| RS137854616 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Brugada syndrome, Long QT syndrome 3 |
| RS137854619 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 2/3, digenic, Congenital long QT syndrome |
| RS1390882998 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiac arrhythmia |
| RS1403211358 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Brugada syndrome 1, Cardiac arrhythmia |
| RS1419998623 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1E, Long QT syndrome 3, Progressive familial heart block |
| RS144511230 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Long QT syndrome 3, Brugada syndrome |
| RS145009013 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Long QT syndrome 3, Dilated cardiomyopathy 1E |
| RS145427253 | Health Risk | Conflicting classifications of pathogenicity | Ventricular fibrillation, paroxysmal familial, type 1 |
| RS1464663200 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiovascular phenotype, SCN5A-related disorder |
| RS146848219 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Cardiac arrhythmia |
| RS1473144775 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiac arrhythmia, Brugada syndrome 1 |
| RS1474459822 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 1, Cardiac arrhythmia |
| RS1481582794 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, 8 conditions, Cardiac arrhythmia |
| RS150264233 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Death in infancy, Cardiovascular phenotype |
| RS1553692416 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiac arrhythmia, Brugada syndrome |
| RS1553704675 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Cardiovascular phenotype, Brugada syndrome 1 |
| RS1553704677 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Brugada syndrome 1 |
| RS1553706324 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1559370502 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Brugada syndrome 1 |
| RS1559378059 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiac arrhythmia |
| RS1559732656 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Brugada syndrome 1 |
| RS1575703249 | Health Risk | Conflicting classifications of pathogenicity | Conduction disorder of the heart, Conduction disorder of the heart |
| RS1575705549 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiovascular phenotype, Brugada syndrome 1 |
| RS1575800407 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Cardiac arrhythmia |
| RS1575830499 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Cardiac arrhythmia, Brugada syndrome 1 |
| RS1575853007 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 1, Cardiovascular phenotype, Brugada syndrome 1 |
| RS182050752 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial heart block, type 1A, Long QT syndrome 3 |