SCN1A c.3695G>A ;(p.S1232N)

Variant ID: 2-166870264-C-T

NM_001165963.1(SCN1A):c.3695G>A;(p.S1232N)

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:

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: SCN1A: 3695G>A
PubMed Link: 24136861
Variant Present in the following documents:
  • Main text
View BVdb publication page