SCN1A c.4328A>T ;(p.D1443V)

Variant ID: 2-166856243-T-A

NM_001165963.1(SCN1A):c.4328A>T;(p.D1443V)

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:

Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.

Medicine
Jiang, TieJia T; Shen, Yaping Y; Chen, Huai H; Yuan, Zhefeng Z; Mao, Shanshan S; Gao, Feng F
Publication Date: 2018-12

Variant appearance in text: Nav1.1: D1443V
PubMed Link: 30558019
Variant Present in the following documents:
  • Main text
  • medi-97-e13565.pdf
View BVdb publication page