SCN5A c.2860_2862delinsTGT ;(p.R954C)

Variant ID: 3-38622788-TCT-ACA

NM_000335.4(SCN5A):c.2860_2862delinsTGT;(p.R954C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.

Plos One
Behr, Elijah R ER; Ritchie, Marylyn D MD; Tanaka, Toshihiro T; Kääb, Stefan S; Crawford, Dana C DC; Nicoletti, Paola P; Floratos, Aris A; Sinner, Moritz F MF; Kannankeril, Prince J PJ; Wilde, Arthur A M AA; Bezzina, Connie R CR; Schulze-Bahr, Eric E; Zumhagen, Sven S; Guicheney, Pascale P; Bishopric, Nanette H NH; Marshall, Vanessa V; Shakir, Saad S; Dalageorgou, Chrysoula C; Bevan, Steve S; Jamshidi, Yalda Y; Bastiaenen, Rachel R; Myerburg, Robert J RJ; Schott, Jean-Jacques JJ; Camm, A John AJ; Steinbeck, Gerhard G; Norris, Kris K; Altman, Russ B RB; Tatonetti, Nicholas P NP; Jeffery, Steve S; Kubo, Michiaki M; Nakamura, Yusuke Y; Shen, Yufeng Y; George, Alfred L AL; Roden, Dan M DM
Publication Date: 2013

Variant appearance in text: SCN5A: R954C
PubMed Link: 24223155
Variant Present in the following documents:
  • Main text
  • pone.0078511.pdf
View BVdb publication page