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SCN1A c.2604G>C ;(p.K868N)
Variant ID: 2-166894628-C-G
NM_001165963.1(
SCN1A
):c.2604G>C;(p.K868N)
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: lys868Asn
PubMed Link:
30868114
Variant Present in the following documents:
Main text
EPI4-4-40.pdf
View BVdb publication page