SCN5A c.5123_5124delinsAC ;(p.T1708N)

Variant ID: 3-38592736-CG-GT

NM_000335.4(SCN5A):c.5123_5124delinsAC;(p.T1708N)

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:

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics
Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ
Publication Date: 2015-08

Variant appearance in text: SCN5A: T1708N
PubMed Link: 25904541
Variant Present in the following documents:
  • Main text
View BVdb publication page