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SCN5A c.1055A>G ;(p.Y352C)
Variant ID: 3-38648245-T-C
NM_000335.4(
SCN5A
):c.1055A>G;(p.Y352C)
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:
A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.
International Journal Of Molecular Medicine
Guo, Qi Q; Ren, Lan L; Chen, Xuhua X; Hou, Cuihong C; Chu, Jianmin J; Pu, Jielin J; Zhang, Shu S
Publication Date: 2016-03
Variant appearance in text: SCN5A: 1055A>G
PubMed Link:
26820605
Variant Present in the following documents:
Main text
View BVdb publication page