SCN1A c.4234_4235insTA ;(p.K1412Ifs*3)

Variant ID: 2-166859031-T-TTA

NM_001165963.1(SCN1A):c.4234_4235insTA;(p.K1412Ifs*3)

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: SCN1A: 4233_4234insAT
PubMed Link: 30558019
Variant Present in the following documents:
  • Main text
View BVdb publication page