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SCN5A c.269A>G ;(p.Q90R)
Variant ID: 3-38674530-T-C
NM_000335.4(
SCN5A
):c.269A>G;(p.Q90R)
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:
Mechanotransduction and Adrenergic Stimulation in Arrhythmogenic Cardiomyopathy: An Overview of in vitro and in vivo Models.
Frontiers In Physiology
Beffagna, Giorgia G; Sommariva, Elena E; Bellin, Milena M
Publication Date: 2020
Variant appearance in text: Nav1.5: Q90R
PubMed Link:
33281612
Variant Present in the following documents:
Main text
View BVdb publication page