SCN1A c.5040del ;(p.M1681Cfs*34)

Variant ID: 2-166848745-TG-T

NM_001165963.1(SCN1A):c.5040del;(p.M1681Cfs*34)

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:

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open
Ouss, Lisa L; Leunen, Dorothee D; Laschet, Jacques J; Chemaly, Nicole N; Barcia, Giulia G; Losito, Emma M EM; Aouidad, Aveline A; Barrault, Zoe Z; Desguerre, Isabelle I; Breuillard, Delphine D; Nabbout, Rima R
Publication Date: 2019-03

Variant appearance in text: SCN1A: 5040delC
PubMed Link: 30868114
Variant Present in the following documents:
  • Main text
  • EPI4-4-40.pdf
View BVdb publication page