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SCN1A c.1259C>A ;(p.A420D)
Variant ID: 2-166903398-G-T
NM_001165963.1(
SCN1A
):c.1259C>A;(p.A420D)
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: 1259C>A; Ala420Asp
PubMed Link:
29056246
Variant Present in the following documents:
Main text
View BVdb publication page