SCN1A c.3721T>C ;(p.Y1241H)

Variant ID: 2-166868777-A-G

NM_001165963.1(SCN1A):c.3721T>C;(p.Y1241H)

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:

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: SCN1A: 3721T>C; Y1241H; rs922514173
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page