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SCN1A c.2594_2595delinsAT ;(p.R865H)
Variant ID: 2-166894637-TC-AT
NM_001165963.1(
SCN1A
):c.2594_2595delinsAT;(p.R865H)
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:
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.
The Journal Of General Physiology
Volkers, Linda L; Kahlig, Kristopher M KM; Das, Joost H G JH; van Kempen, Marjan J A MJ; Lindhout, Dick D; Koeleman, Bobby P C BP; Rook, Martin B MB
Publication Date: 2013-12
Variant appearance in text: SCN1A: R865H
PubMed Link:
24277604
Variant Present in the following documents:
Main text
JGP_201311042.pdf
View BVdb publication page