SCN1A c.5140A>G ;(p.M1714V)

Variant ID: 2-166848645-T-C

NM_001165963.1(SCN1A):c.5140A>G;(p.M1714V)

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:

Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.

Frontiers In Neurology
Tsai, Meng-Han MH; Chan, Chung-Kin CK; Chang, Ying-Chao YC; Lin, Chih-Hsiang CH; Liou, Chia-Wei CW; Chang, Wen-Neng WN; Ng, Ching-Ching CC; Lim, Kheng-Seang KS; Hwang, Daw-Yang DY
Publication Date: 2018

Variant appearance in text: SCN1A: Met1714Val
PubMed Link: 30034362
Variant Present in the following documents:
  • Main text
  • fneur-09-00515.pdf
View BVdb publication page