SCN1A c.4796del ;(p.Y1599Ffs*19)

Variant ID: 2-166850712-AT-A

NM_001165963.1(SCN1A):c.4796del;(p.Y1599Ffs*19)

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:

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Frontiers In Neurology
Marco Hernández, Ana Victoria AV; Tomás Vila, Miguel M; Caro Llopis, Alfonso A; Monfort, Sandra S; Martinez, Francisco F
Publication Date: 2021

Variant appearance in text: SCN1A: 4796delA
PubMed Link: 34917021
Variant Present in the following documents:
  • Main text
  • fneur-12-784892.pdf
View BVdb publication page