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.




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