SCN1A c.5035del ;(p.L1679*)

Variant ID: 2-166848749-AG-A

NM_001165963.1(SCN1A):c.5035del;(p.L1679*)

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:

Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.

Frontiers In Molecular Neuroscience
Chen, Chunhong C; Fang, Fang F; Wang, Xu X; Lv, Junlan J; Wang, Xiaohui X; Jin, Hong H
Publication Date: 2022

Variant appearance in text: SMEI: 5035delC
PubMed Link: 35571373
Variant Present in the following documents:
  • Main text
  • fnmol-15-821012.pdf
View BVdb publication page