SCN1A c.2934T>G ;(p.I978M)

Variant ID: 2-166894298-A-C

NM_001165963.1(SCN1A):c.2934T>G;(p.I978M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Publication Date: 2018-12

Variant appearance in text: SCN1A: 2934T>G
PubMed Link: 30487145
Variant Present in the following documents:
  • supp_mcs.a003178_Supplemental_File_3.xlsx, sheet 1
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: I978M
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page