SCN5A c.655_656delinsGC ;(p.R219A)

Variant ID: 3-38655281-CG-GC

NM_000335.4(SCN5A):c.655_656delinsGC;(p.R219A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.

Plos One
Gosselin-Badaroudine, Pascal P; Keller, Dagmar I DI; Huang, Hai H; Pouliot, Valérie V; Chatelier, Aurélien A; Osswald, Stefan S; Brink, Marijke M; Chahine, Mohamed M
Publication Date: 2012

Variant appearance in text: Nav1.5: R219A
PubMed Link: 22675453
Variant Present in the following documents:
  • Main text
  • pone.0038331.pdf
View BVdb publication page