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SCN5A c.1984G>T ;(p.A662S)
Variant ID: 3-38640448-C-A
NM_000335.4(
SCN5A
):c.1984G>T;(p.A662S)
This variant was identified in 3 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: 1984G>T; A662S
PubMed Link:
32449611
Variant Present in the following documents:
MGG3-8-e1309-s002.xlsx, sheet 1
View BVdb publication page
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06
Variant appearance in text: SCN5A: 1984G>T; Ala662Ser; rs371313714
PubMed Link:
30847666
Variant Present in the following documents:
12471_2019_1250_MOESM2_ESM.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: A662S
PubMed Link:
28316956
Variant Present in the following documents:
Main text
40709_2017_Article_63.pdf
View BVdb publication page