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SCN5A c.1940C>T ;(p.A647V)
Variant ID: 3-38640492-G-A
NM_000335.4(
SCN5A
):c.1940C>T;(p.A647V)
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:
Prevalence of the congenital long-QT syndrome.
Circulation
Schwartz, Peter J PJ; Stramba-Badiale, Marco M; Crotti, Lia L; Pedrazzini, Matteo M; Besana, Alessandra A; Bosi, Giuliano G; Gabbarini, Fulvio F; Goulene, Karine K; Insolia, Roberto R; Mannarino, Savina S; Mosca, Fabio F; Nespoli, Luigi L; Rimini, Alessandro A; Rosati, Enrico E; Salice, Patrizia P; Spazzolini, Carla C
Publication Date: 2009-11-03
Variant appearance in text: SCN5A: A647V
PubMed Link:
19841298
Variant Present in the following documents:
Main text
View BVdb publication page