SCN5A c.1654G>T ;(p.G552W)

SCN5A c.1654G>T ;(p.G552W)

Variant ID: 3-38645439-C-A

NM_000335.4(SCN5A):c.1654G>T;(p.G552W)

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:

Asymptomatic ventricular tachycardia: diagnostic pitfalls of Andersen-Tawil syndrome-a case report.

European Heart Journal. Case Reports

Nguyen, Dustin D; Ferns, Sunita J SJ

Publication Date: 2018-09

Variant appearance in text: SCN5A: G552W

PubMed Link: 31020160

Variant Present in the following documents:

Main text

yty083.pdf

View BVdb publication page

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs3918389

PubMed Link: 29273096

Variant Present in the following documents:

13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page