SCN5A c.1834_1835delinsCT ;(p.T612L)

Variant ID: 3-38645258-GT-AG

NM_000335.4(SCN5A):c.1834_1835delinsCT;(p.T612L)

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:

Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.

Circulation. Arrhythmia And Electrophysiology
Cuneo, Bettina F BF; Etheridge, Susan P SP; Horigome, Hitoshi H; Sallee, Denver D; Moon-Grady, Anita A; Weng, Hsin-Yi HY; Ackerman, Michael J MJ; Benson, D Woodrow DW
Publication Date: 2013-10

Variant appearance in text: SCN5A: T612L
PubMed Link: 23995044
Variant Present in the following documents:
  • Main text
View BVdb publication page