SCN5A c.1292A>G ;(p.E431G)

Variant ID: 3-38647488-T-C

NM_000335.4(SCN5A):c.1292A>G;(p.E431G)

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:

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Disease Markers
Thongnak, Chuphong C; Limprasert, Pornprot P; Tangviriyapaiboon, Duangkamol D; Silvilairat, Suchaya S; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Sukasem, Chonlaphat C; Chantratita, Wasun W
Publication Date: 2016

Variant appearance in text: SCN5A: 1292A>G
PubMed Link: 28018021
Variant Present in the following documents:
  • Main text
View BVdb publication page