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SCN1B - sodium voltage-gated channel beta subunit 1
- Synonym(s) :
- Previous symbols and names : 'sodium channel, voltage-gated, type I, beta', Sodium channel, voltage-gated, type I, beta, sodium channel, voltage gated, type I beta subunit, sodium channel, voltage-gated, type I, beta polypeptide, sodium channel, voltage-gated, type I, beta subunit
- Type : gene with protein product
- Chromosomal location : 19q13.11
- OMIM: 600235
- HGNC: 10586
- UniProtKB: Q07699
- Genatlas: SCN1B
- GenCC: SCN1B
- Ensembl: ENSG00000105711
- IUPHAR-DB: -
- Reactome: Q07699
- LOVD: SCN1B
Diseases list
- Disease-causing germline mutation(s) in Early infantile epileptic encephalopathy
ORPHA:1934 
- Disease-causing germline mutation(s) in Generalized epilepsy with febrile seizures-plus
ORPHA:36387 - Disease-causing germline mutation(s) (loss of function) in Dravet syndrome
ORPHA:33069 - Disease-causing germline mutation(s) (loss of function) in Familial progressive cardiac conduction defect
ORPHA:871 - Candidate gene tested in Brugada syndrome
ORPHA:130 - Candidate gene tested in Familial atrial fibrillation
ORPHA:334
: AssessedAdditional information
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