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SCN5A c.2948G>A ;(p.G983D)
Variant ID: 3-38622702-C-T
NM_000335.4(
SCN5A
):c.2948G>A;(p.G983D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Experimental Biology And Medicine (Maywood, N.J.)
Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G
Publication Date: 2018-06
Variant appearance in text: LQT3: G983D
PubMed Link:
29806494
Variant Present in the following documents:
Main text
View BVdb publication page
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
European Journal Of Human Genetics : Ejhg
Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS
Publication Date: 2012-08
Variant appearance in text: SCN5A: 2948G>A
PubMed Link:
22378279
Variant Present in the following documents:
Main text
View BVdb publication page