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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