SCN3A Chromosome 2
Sodium voltage-gated channel alpha subunit 3
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What This Gene Does
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains 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 alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
2q24.3
Ensembl
ENSG00000153253
Associated Conditions (13)
Inborn genetic diseases
SCN3A-related disorder
Epilepsy
familial focal
with variable foci 4
Developmental and epileptic encephalopathy
62
Seizure
Neurodevelopmental disorder
atypical cerebral palsy
Polymicrogyria
Developmental delay
Congenital bilateral perisylvian syndrome
Key Variants
RS1018125027
Conflicting classifications of pathogenicity
Health Risk
RS1159326316
Conflicting classifications of pathogenicity
Health Risk
RS1295645330
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1374110015
Conflicting classifications of pathogenicity
Health Risk
RS138331141
Conflicting classifications of pathogenicity
SCN3A-related disorder, SCN3A-related disorder
Health Risk
RS138766015
Conflicting classifications of pathogenicity
SCN3A-related disorder, SCN3A-related disorder
Health Risk
RS139769668
Conflicting classifications of pathogenicity
Health Risk
RS139860168
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142323631
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143360102
Conflicting classifications of pathogenicity
Health Risk
RS143763998
Conflicting classifications of pathogenicity
Inborn genetic diseases, SCN3A-related disorder, Inborn genetic diseases
Health Risk
RS144155311
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (106)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS747726149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748935500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750026037 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752844723 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754043732 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754584273 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755167692 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755522851 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761181797 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS76144052 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761584493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765013479 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765498698 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765919309 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766258051 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767052591 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768382383 | Health Risk | Conflicting classifications of pathogenicity | SCN3A-related disorder, Inborn genetic diseases, SCN3A-related disorder |
| RS768747448 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial focal, with variable foci 4 |
| RS769359817 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769710212 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial focal, with variable foci 4 |
| RS771446983 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774195502 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, familial focal, with variable foci 4 |
| RS774375940 | Health Risk | Conflicting classifications of pathogenicity | SCN3A-related disorder, Inborn genetic diseases, SCN3A-related disorder |
| RS774769014 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Developmental and epileptic encephalopathy, 62 |
| RS775381308 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776260027 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS868728039 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS965476894 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS977221211 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1321955401 | Health Risk | Likely pathogenic | — |
| RS1553517203 | Health Risk | Likely pathogenic | — |
| RS1553517274 | Health Risk | Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 62 |
| RS1553537132 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, atypical cerebral palsy |
| RS1574159505 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS1574270768 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS1685039783 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS2105621335 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS2105621618 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS2105635851 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS2105636283 | Health Risk | Likely pathogenic | — |
| RS2105772518 | Health Risk | Likely pathogenic | — |
| RS2105772689 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS2105776898 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS2468478679 | Health Risk | Likely pathogenic | — |
| RS369720053 | Health Risk | Likely pathogenic | — |
| RS755159935 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 62, Developmental and epileptic encephalopathy |
| RS1057518801 | Health Risk | Pathogenic | Polymicrogyria, Developmental delay, Developmental and epileptic encephalopathy |
| RS1553527930 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 62, Epilepsy |
| RS1689488709 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2105890565 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 4 |