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SCN1A c.1513A>T ;(p.K505*)
Variant ID: 2-166901702-T-A
NM_001165963.1(
SCN1A
):c.1513A>T;(p.K505*)
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: K505X
PubMed Link:
30185235
Variant Present in the following documents:
Main text
13041_2018_Article_392.pdf
View BVdb publication page