SCN5A c.302C>T ;(p.T101I)

Variant ID: 3-38671892-G-A

NM_000335.4(SCN5A):c.302C>T;(p.T101I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: SCN5A: 302C>T; T101I
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



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: 302C>T; T101I
PubMed Link: 32449611
Variant Present in the following documents:
  • MGG3-8-e1309-s002.xlsx, sheet 1
View BVdb publication page