SCN1A c.2259T>G ;(p.Y753*)

Variant ID: 2-166897897-A-C

NM_001165963.1(SCN1A):c.2259T>G;(p.Y753*)

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:

SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

Journal Of Clinical Neurology (Seoul, Korea)
Do, Thi Thu Hang TT; Vu, Diem My DM; Huynh, Thi Thuy Kieu TT; Le, Thi Khanh Van TK; Sohn, Eun Hwa EH; Le, Thieu Mai Thao TM; Ha, Huu Hao HH; Bui, Chi Bao CB
Publication Date: 2017-01

Variant appearance in text: SCN1A: 2259T>G
PubMed Link: 28079314
Variant Present in the following documents:
  • Main text
  • jcn-13-62.pdf
View BVdb publication page