SCN1A c.1119del ;(p.L373Ffs*6)

Variant ID: 2-166904188-AC-A

NM_001165963.1(SCN1A):c.1119del;(p.L373Ffs*6)

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:

[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Wei, Chun-Miao CM; Xia, Gui-Zhi GZ; Ren, Rong-Na RN
Publication Date: 2018-02

Variant appearance in text: SCN1A: L373Ffs*6
PubMed Link: 29429461
Variant Present in the following documents:
  • Main text
View BVdb publication page