SCN5A c.2484C>T ;(p.L828=)

Variant ID: 3-38627485-G-A

NM_000335.4(SCN5A):c.2484C>T;(p.L828=)

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:

Molecular mechanisms of arrhythmogenic cardiomyopathy.

Nature Reviews. Cardiology
Austin, Karyn M KM; Trembley, Michael A MA; Chandler, Stephanie F SF; Sanders, Stephen P SP; Saffitz, Jeffrey E JE; Abrams, Dominic J DJ; Pu, William T WT
Publication Date: 2019-09

Variant appearance in text: SCN5A: 2484C>T
PubMed Link: 31028357
Variant Present in the following documents:
  • Main text
View BVdb publication page


iPSC technology--Powerful hand for disease modeling and therapeutic screen.

Bmb Reports
Kim, Changsung C
Publication Date: 2015-05

Variant appearance in text: LQT3: 2484C>T
PubMed Link: 25104399
Variant Present in the following documents:
  • Main text
View BVdb publication page