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SCN5A c.199C>T ;(p.L67F)
Variant ID: 3-38674600-G-A
NM_000335.4(
SCN5A
):c.199C>T;(p.L67F)
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:
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.
Disease Markers
Thongnak, Chuphong C; Limprasert, Pornprot P; Tangviriyapaiboon, Duangkamol D; Silvilairat, Suchaya S; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Sukasem, Chonlaphat C; Chantratita, Wasun W
Publication Date: 2016
Variant appearance in text: SCN5A: 199C>T
PubMed Link:
28018021
Variant Present in the following documents:
Main text
View BVdb publication page