SCN4B Chromosome 11
Sodium voltage-gated channel beta subunit 4
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What This Gene Does
The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"V-set domain containing|Sodium voltage-gated channel beta subunits"
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000177098
Associated Conditions (7)
Cardiovascular phenotype
Long QT syndrome 10
SUDDEN INFANT DEATH SYNDROME
SCN4B-related disorder
Atrial fibrillation
familial
17
Key Variants
RS112363898
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype
Health Risk
RS1265062815
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype
Health Risk
RS140348243
Conflicting classifications of pathogenicity
SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 10, Cardiovascular phenotype
Health Risk
RS149457565
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype
Health Risk
RS149868494
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 10, SCN4B-related disorder
Health Risk
RS149979176
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype
Health Risk
RS150312046
Conflicting classifications of pathogenicity
Long QT syndrome 10, Cardiovascular phenotype, SCN4B-related disorder
Health Risk
RS201454653
Conflicting classifications of pathogenicity
Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10
Health Risk
RS375056921
Conflicting classifications of pathogenicity
Health Risk
RS377730779
Conflicting classifications of pathogenicity
Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10
Health Risk
RS61065977
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype
Health Risk
RS72546675
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112363898 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype |
| RS1265062815 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype |
| RS140348243 | Health Risk | Conflicting classifications of pathogenicity | SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 10, Cardiovascular phenotype |
| RS149457565 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype |
| RS149868494 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, SCN4B-related disorder |
| RS149979176 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype |
| RS150312046 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Cardiovascular phenotype, SCN4B-related disorder |
| RS201454653 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10 |
| RS375056921 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377730779 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10 |
| RS61065977 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype |
| RS72546675 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype |
| RS750329453 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10 |
| RS755915465 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10 |
| RS758764353 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Long QT syndrome 10 |
| RS761173704 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome 10, Cardiovascular phenotype |
| RS762777113 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10 |
| RS772762943 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Long QT syndrome 10 |
| RS777894412 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 10, Cardiovascular phenotype, Long QT syndrome 10 |
| RS587777559 | Health Risk | Pathogenic | Atrial fibrillation, familial, 17 |
| RS587777560 | Health Risk | Pathogenic | Atrial fibrillation, familial, 17 |