SCN1A c.1327G>T ;(p.E443*)

Variant ID: 2-166903330-C-A

NM_001165963.1(SCN1A):c.1327G>T;(p.E443*)

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:

Novel and de novo mutations in pediatric refractory epilepsy.

Molecular Brain
Liu, Jing J; Tong, Lili L; Song, Shuangshuang S; Niu, Yue Y; Li, Jun J; Wu, Xiu X; Zhang, Jie J; Zai, Clement C CC; Luo, Fang F; Wu, Jian J; Li, Haiyin H; Wong, Albert H C AHC; Sun, Ruopeng R; Liu, Fang F; Li, Baomin B
Publication Date: 2018-09-05

Variant appearance in text: SCN1A: E443X
PubMed Link: 30185235
Variant Present in the following documents:
  • Main text
  • 13041_2018_Article_392.pdf
View BVdb publication page