SCN5A c.2431C>A ;(p.R811S)

Variant ID: 3-38628896-G-T

NM_000335.4(SCN5A):c.2431C>A;(p.R811S)

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:

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Plos One
Sahlin, Ellika E; Gréen, Anna A; Gustavsson, Peter P; Liedén, Agne A; Nordenskjöld, Magnus M; Papadogiannakis, Nikos N; Pettersson, Karin K; Nilsson, Daniel D; Jonasson, Jon J; Iwarsson, Erik E
Publication Date: 2019

Variant appearance in text: SCN5A: 2431C>A; Arg811Ser
PubMed Link: 30615648
Variant Present in the following documents:
  • Main text
  • pone.0210017.pdf
View BVdb publication page