SCN1B Chromosome 19
Sodium voltage-gated channel beta subunit 1
Upload your DNA to see your personal genotypes for variants in SCN1B.
What This Gene Does
Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"V-set domain containing|Sodium voltage-gated channel beta subunits"
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000105711
Associated Conditions (22)
Brugada syndrome 5
Cardiovascular phenotype
Developmental and epileptic encephalopathy
52
Seizure
Atrial fibrillation
familial
13
Generalized epilepsy with febrile seizures plus
type 1
Undetermined early-onset epileptic encephalopathy
Cardiac arrhythmia
Melanoma
Uveal melanoma
SCN1B-related disorder
Long QT syndrome
Ventricular fibrillation
Epileptic encephalopathy
Brugada syndrome
Cardiomyopathy
+2 more conditions
Key Variants
RS1049927697
Conflicting classifications of pathogenicity
Brugada syndrome 5, Brugada syndrome 5
Health Risk
RS1064794589
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS112767703
Conflicting classifications of pathogenicity
Brugada syndrome 5, Brugada syndrome 5
Health Risk
RS1135401736
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 52, Seizure
Health Risk
RS1159393836
Conflicting classifications of pathogenicity
Brugada syndrome 5, Brugada syndrome 5
Health Risk
RS1193962006
Conflicting classifications of pathogenicity
Brugada syndrome 5, Undetermined early-onset epileptic encephalopathy, Cardiovascular phenotype
Health Risk
RS1322172446
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 5, Cardiovascular phenotype
Health Risk
RS1375857363
Conflicting classifications of pathogenicity
Brugada syndrome 5, Cardiovascular phenotype, Brugada syndrome 5
Health Risk
RS138381632
Conflicting classifications of pathogenicity
Brugada syndrome 5, Cardiovascular phenotype, Developmental and epileptic encephalopathy
Health Risk
RS1457466072
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 5, Cardiovascular phenotype
Health Risk
RS147073518
Conflicting classifications of pathogenicity
Generalized epilepsy with febrile seizures plus, type 1, Brugada syndrome 5
Health Risk
RS150721582
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 5, Developmental and epileptic encephalopathy
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780958012 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 5, SCN1B-related disorder, Cardiovascular phenotype |
| RS786205828 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 5, Brugada syndrome 5 |
| RS786205829 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 5, Brugada syndrome 5 |
| RS786205834 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 5, Generalized epilepsy with febrile seizures plus, type 1 |
| RS786205837 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 5, Cardiovascular phenotype, Brugada syndrome 5 |
| RS2064208734 | Health Risk | Likely pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2151745961 | Health Risk | Likely pathogenic | — |
| RS2514235517 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 52, Developmental and epileptic encephalopathy |
| RS786205835 | Health Risk | Likely pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS1057519457 | Health Risk | Pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS1568348569 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS1600364712 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 52, Developmental and epileptic encephalopathy |
| RS1600370558 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 52, Generalized epilepsy with febrile seizures plus |
| RS2064208424 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5, Brugada syndrome 5 |
| RS2064222084 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2064230124 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2151746369 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2151746426 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2514232982 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2514232999 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2514233130 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2514234475 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2514234786 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS2514240912 | Health Risk | Pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS267607029 | Health Risk | Pathogenic | Conduction system disorder, Conduction system disorder |
| RS724159982 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, type 1, Generalized epilepsy with febrile seizures plus |
| RS931949929 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 52, Developmental and epileptic encephalopathy |
| RS104894718 | Health Risk | Pathogenic/Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 1, Atrial fibrillation |
| RS138450474 | Health Risk | Pathogenic/Likely pathogenic | Brugada syndrome 5, Brugada syndrome 5 |
| RS16969925 | Health Risk | Pathogenic/Likely pathogenic | Atrial fibrillation, familial, 13 |
| RS786205830 | Health Risk | Pathogenic/Likely pathogenic | Generalized epilepsy with febrile seizures plus, type 1, Cardiovascular phenotype |
| RS794727487 | Health Risk | Pathogenic/Likely pathogenic | Brugada syndrome 5, Cardiovascular phenotype, Brugada syndrome 5 |