Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
SCN5A
Voltage-gated sodium channel type V alpha




3p21
* Progressive familial heart block, type I - PFHBI (7.7, 10.106, 10.141, 10.151, 10.38)
* Hereditary bundle branch system defect - HBBD (7.7, 10.106, 10.141, 10.151, 10.38)
* Cardiac conduction defect, progressive - PCCD (7.7, 10.106, 10.141, 10.151, 10.38)
* Brugada syndrome - SCN5A (7.7, 10.106, 10.141, 10.151, 10.38)
* Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.106, 10.141, 10.151, 10.38)
* Ventricular fibrillation, idiopathic - IVF (7.7, 10.106, 10.141, 10.151, 10.38)
* Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.106, 10.141, 10.151, 10.38)
* Long QT syndrome-3 - LQT3 (7.7, 10.106, 10.141, 10.151, 10.38)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.106, 10.141, 10.151, 10.38)