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SCN5A c.2194C>G ;(p.L732V)
Variant ID: 3-38639288-G-C
NM_000335.4(
SCN5A
):c.2194C>G;(p.L732V)
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:
Cardiac Evaluation of Children With a Family History of Sudden Death.
Journal Of The American College Of Cardiology
Webster, Gregory G; Olson, Rachael R; Schoppen, Zachary J ZJ; Giancola, Nicholas N; Balmert, Lauren C LC; Cherny, Sara S; George, Alfred L AL
Publication Date: 2019-08-13
Variant appearance in text: SCN5A: L732V
PubMed Link:
31395126
Variant Present in the following documents:
Main text
View BVdb publication page