SCN5A c.100del ;(p.R34Afs*63)

Variant ID: 3-38674698-CG-C

NM_000335.4(SCN5A):c.100del;(p.R34Afs*63)

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:

Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.

Circulation. Arrhythmia And Electrophysiology
Chiang, David Y DY; Kim, Jeffrey J JJ; Valdes, Santiago O SO; de la Uz, Caridad C; Fan, Yuxin Y; Orcutt, Jeffrey J; Domino, Melissa M; Smith, Melissa M; Wehrens, Xander H T XH; Miyake, Christina Y CY
Publication Date: 2015-10

Variant appearance in text: SCN5A: R34Afs*63
PubMed Link: 26111534
Variant Present in the following documents:
  • Main text
View BVdb publication page