SCN1A c.985G>T ;(p.G329C)

Variant ID: 2-166905439-C-A

NM_001165963.1(SCN1A):c.985G>T;(p.G329C)

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:

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: SCN1A: 985G>T; Gly329Cys
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page