SCN1A c.689T>C ;(p.I230T)

Variant ID: 2-166909367-A-G

NM_001165963.1(SCN1A):c.689T>C;(p.I230T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Pan, Xiaojing X; Li, Zhangqiang Z; Jin, Xueqin X; Zhao, Yanyu Y; Huang, Gaoxingyu G; Huang, Xiaoshuang X; Shen, Zilin Z; Cao, Yong Y; Dong, Mengqiu M; Lei, Jianlin J; Yan, Nieng N
Publication Date: 2021-03-16

Variant appearance in text: SCN1A: I230T
PubMed Link: 33712547
Variant Present in the following documents:
  • Main text
View BVdb publication page