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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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