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SCN5A - sodium voltage-gated channel alpha subunit 5
- Synonym(s) : CDCD2, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, long QT syndrome 3, LQT3, Nav1.5, PFHB1, SSS1
- Previous symbols and names : CMD1E, sodium channel, voltage gated, type V alpha subunit, sodium channel, voltage-gated, type V, alpha (long QT syndrome 3), sodium channel, voltage-gated, type V, alpha subunit
- Type : gene with protein product
- Chromosomal location : 3p22.2
- OMIM: 600163
- HGNC: 10593
- UniProtKB: Q14524
- Genatlas: SCN5A
- GenCC: SCN5A
- Ensembl: ENSG00000183873
- IUPHAR-DB: 582
- Reactome: Q14524
- LOVD: SCN5A
Diseases list
- Disease-causing germline mutation(s) in Atrial standstill
ORPHA:1344 
- Disease-causing germline mutation(s) in Brugada syndrome
ORPHA:130 - Disease-causing germline mutation(s) in Familial sick sinus syndrome
ORPHA:166282 - Disease-causing germline mutation(s) in Idiopathic ventricular fibrillation, non Brugada type
ORPHA:228140 - Disease-causing germline mutation(s) (loss of function) in Familial progressive cardiac conduction defect
ORPHA:871 - Disease-causing germline mutation(s) (gain of function) in Familial atrial fibrillation
ORPHA:334 - Disease-causing germline mutation(s) (gain of function) in Familial isolated dilated cardiomyopathy
ORPHA:154 - Disease-causing germline mutation(s) (gain of function) in Romano-Ward syndrome
ORPHA:101016
: AssessedAdditional information
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