Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN1A c.2923G>C ;(p.V975L)
Variant ID: 2-166894309-C-G
NM_001165963.1(
SCN1A
):c.2923G>C;(p.V975L)
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:
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Pediatric Neurology
Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A
Publication Date: 2017-12
Variant appearance in text: SCN1A: 2923G>C; Val975Leu
PubMed Link:
29056246
Variant Present in the following documents:
Main text
View BVdb publication page