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SCN5A c.446C>T ;(p.A149V)
Variant ID: 3-38663927-G-A
NM_000335.4(
SCN5A
):c.446C>T;(p.A149V)
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:
The role of sodium channels in sudden unexpected death in pediatrics.
Molecular Genetics & Genomic Medicine
Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; PĂ©rez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH
Publication Date: 2020-08
Variant appearance in text: SCN5A: 446C>T; A149V
PubMed Link:
32449611
Variant Present in the following documents:
MGG3-8-e1309-s002.xlsx, sheet 1
View BVdb publication page
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Journal Of Biological Research (Thessalonike, Greece)
Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z
Publication Date: 2017-12
Variant appearance in text: SCN5A: A149V
PubMed Link:
28316956
Variant Present in the following documents:
Main text
40709_2017_Article_63.pdf
View BVdb publication page