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SCN1A c.1120T>G ;(p.S374A)
Variant ID: 2-166904187-A-C
NM_001165963.1(
SCN1A
):c.1120T>G;(p.S374A)
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: 1120T>G
PubMed Link:
24136861
Variant Present in the following documents:
Main text
View BVdb publication page