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SCN1A c.3031_3032delinsCT ;(p.N1011L)
Variant ID: 2-166892955-TT-AG
NM_001165963.1(
SCN1A
):c.3031_3032delinsCT;(p.N1011L)
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:
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
The Journal Of Physiology
Rhodes, Thomas H TH; Vanoye, Carlos G CG; Ohmori, Iori I; Ogiwara, Ikuo I; Yamakawa, Kazuhiro K; George, Alfred L AL
Publication Date: 2005-12-01
Variant appearance in text: SCN1A: N1011L
PubMed Link:
16210358
Variant Present in the following documents:
Main text
View BVdb publication page