SCN3B Chromosome 11
Sodium voltage-gated channel beta subunit 3
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What This Gene Does
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"V-set domain containing|Sodium voltage-gated channel beta subunits"
Locus Type
gene with protein product
Location
11q24.1
Ensembl
ENSG00000166257
Associated Conditions (9)
Brugada syndrome 7
Brugada syndrome
Atrial fibrillation
familial
16
Cardiovascular phenotype
Death in infancy
Cardiomyopathy
SCN3B-related disorder
Key Variants
RS121918282
Conflicting classifications of pathogenicity
Brugada syndrome 7, Brugada syndrome, Atrial fibrillation
Health Risk
RS147205617
Conflicting classifications of pathogenicity
Death in infancy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS147803210
Conflicting classifications of pathogenicity
Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7
Health Risk
RS186341159
Conflicting classifications of pathogenicity
Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7
Health Risk
RS368054375
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 7, Cardiovascular phenotype
Health Risk
RS375755770
Conflicting classifications of pathogenicity
Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7
Health Risk
RS746954414
Conflicting classifications of pathogenicity
Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7
Health Risk
RS770801747
Conflicting classifications of pathogenicity
Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7
Health Risk
RS771342044
Conflicting classifications of pathogenicity
Health Risk
RS779277447
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS996152549
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS587777557
Pathogenic
Atrial fibrillation, familial, 16
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918282 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 7, Brugada syndrome, Atrial fibrillation |
| RS147205617 | Health Risk | Conflicting classifications of pathogenicity | Death in infancy, Cardiovascular phenotype, Cardiomyopathy |
| RS147803210 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7 |
| RS186341159 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7 |
| RS368054375 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 7, Cardiovascular phenotype |
| RS375755770 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7 |
| RS746954414 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7 |
| RS770801747 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 7, Cardiovascular phenotype, Brugada syndrome 7 |
| RS771342044 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779277447 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS996152549 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS587777557 | Health Risk | Pathogenic | Atrial fibrillation, familial, 16 |
| RS587777558 | Health Risk | Pathogenic | Atrial fibrillation, familial, 16 |