SCN5A c.5242A>G ;(p.I1748V)

Variant ID: 3-38592618-T-C

NM_000335.4(SCN5A):c.5242A>G;(p.I1748V)

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:

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: I1748V
PubMed Link: 29806494
Variant Present in the following documents:
  • Main text
View BVdb publication page