SCN5A c.3794A>G ;(p.Y1265C)

Variant ID: 3-38607943-T-C

NM_000335.4(SCN5A):c.3794A>G;(p.Y1265C)

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:

The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine
Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH
Publication Date: 2020-08

Variant appearance in text: SCN5A: 3794A>G
PubMed Link: 32449611
Variant Present in the following documents:
  • MGG3-8-e1309-s002.xlsx, sheet 1
View BVdb publication page