SCN5A c.2741T>G ;(p.L914*)

Variant ID: 3-38627228-A-C

NM_000335.4(SCN5A):c.2741T>G;(p.L914*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.

Plos One
Liu, Hui H; Chatel, Stéphanie S; Simard, Christophe C; Syam, Ninda N; Salle, Laurent L; Probst, Vincent V; Morel, Julie J; Millat, Gilles G; Lopez, Michel M; Abriel, Hugues H; Schott, Jean-Jacques JJ; Guinamard, Romain R; Bouvagnet, Patrice P
Publication Date: 2013

Variant appearance in text: SCN5A: L914X
PubMed Link: 23382873
Variant Present in the following documents:
  • Main text
  • pone.0054131.pdf
View BVdb publication page