SCN1A c.4244T>G ;(p.F1415C)

Variant ID: 2-166859022-A-C

NM_001165963.1(SCN1A):c.4244T>G;(p.F1415C)

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>G
PubMed Link: 28540321
Variant Present in the following documents:
  • Main text
  • 10.1177_2329048X17706794.pdf
View BVdb publication page