SCN5A c.1400C>A ;(p.A467D)

Variant ID: 3-38646338-G-T

NM_000335.4(SCN5A):c.1400C>A;(p.A467D)

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:

Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease.

Plos One
Liu, Jie J; Bayer, Jason D JD; Aschar-Sobbi, Roozbeh R; Wauchop, Marianne M; Spears, Danna D; Gollob, Michael M; Vigmond, Edward J EJ; Tsushima, Robert R; Backx, Peter H PH; Chauhan, Vijay S VS
Publication Date: 2018

Variant appearance in text: SCN5A: A467D
PubMed Link: 29791480
Variant Present in the following documents:
  • Main text
  • pone.0197273.pdf
View BVdb publication page