SCN1A c.4226A>G ;(p.K1409R)

Variant ID: 2-166859040-T-C

NM_001165963.1(SCN1A):c.4226A>G;(p.K1409R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: SCN1A: 4226A>G
PubMed Link: 24136861
Variant Present in the following documents:
  • Main text
View BVdb publication page