SCN5A c.1756_1761del ;(p.A586_L587del)

Variant ID: 3-38645331-GGAGGGC-G

NM_000335.4(SCN5A):c.1756_1761del;(p.A586_L587del)

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; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH
Publication Date: 2020-08

Variant appearance in text: SCN5A: 1756_1761delGCCCTC
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: A586_L587del
PubMed Link: 28316956
Variant Present in the following documents:
  • Main text
  • 40709_2017_Article_63.pdf
View BVdb publication page