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SCN5A c.-52-8043T>C
Variant ID: 3-38682893-A-G
NM_000335.4(
SCN5A
):c.-52-8043T>C
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:
Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Kapoor, Ashish A; Lee, Dongwon D; Zhu, Luke L; Soliman, Elsayed Z EZ; Grove, Megan L ML; Boerwinkle, Eric E; Arking, Dan E DE; Chakravarti, Aravinda A
Publication Date: 2019-05-28
Variant appearance in text: rs9880327
PubMed Link:
31068470
Variant Present in the following documents:
Main text
View BVdb publication page