SCN5A c.997G>C ;(p.G333R)

Variant ID: 3-38649643-C-G

NM_000335.4(SCN5A):c.997G>C;(p.G333R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Lancet (London, England)
Männikkö, Roope R; Wong, Leonie L; Tester, David J DJ; Thor, Michael G MG; Sud, Richa R; Kullmann, Dimitri M DM; Sweeney, Mary G MG; Leu, Costin C; Sisodiya, Sanjay M SM; FitzPatrick, David R DR; Evans, Margaret J MJ; Jeffrey, Iona J M IJM; Tfelt-Hansen, Jacob J; Cohen, Marta C MC; Fleming, Peter J PJ; Jaye, Amie A; Simpson, Michael A MA; Ackerman, Michael J MJ; Hanna, Michael G MG; Behr, Elijah R ER; Matthews, Emma E
Publication Date: 2018-04-14

Variant appearance in text: SCN5A: Gly333Arg
PubMed Link: 29605429
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page