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SCN5A c.2516_2574del ;(p.L839Pfs*93)
Variant ID: 3-38627395-GCATGCCCACCACAGCAAAGATGAACACGATGATGGCTAGCACCAGTGTCAGGTTCCCCA-G
NM_000335.4(
SCN5A
):c.2516_2574del;(p.L839Pfs*93)
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:
Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.
Frontiers In Cardiovascular Medicine
Yuan, Meng M; Guo, Yi Y; Xia, Hong H; Xu, Hongbo H; Deng, Hao H; Yuan, Lamei L
Publication Date: 2021
Variant appearance in text: SCN5A: 2437_2577del
PubMed Link:
34957250
Variant Present in the following documents:
Main text
fcvm-08-758903.pdf
View BVdb publication page