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SCN1A c.4244T>A ;(p.F1415Y)
Variant ID: 2-166859022-A-T
NM_001165963.1(
SCN1A
):c.4244T>A;(p.F1415Y)
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:
Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome.
Child Neurology Open
Gontika, Maria P MP; Konialis, Christopher C; Pangalos, Constantine C; Papavasiliou, Antigone A
Publication Date: 2017
Variant appearance in text: SCN1A: 4244T>A
PubMed Link:
28540321
Variant Present in the following documents:
Main text
10.1177_2329048X17706794.pdf
View BVdb publication page