SCN1A c.2951T>G ;(p.L984R)

Variant ID: 2-166893036-A-C

NM_001165963.1(SCN1A):c.2951T>G;(p.L984R)

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: 2951T>G; Leu984Arg
PubMed Link: 30868114
Variant Present in the following documents:
  • Main text
  • EPI4-4-40.pdf
View BVdb publication page