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SCN1A c.4513A>C ;(p.K1505Q)
Variant ID: 2-166852591-T-G
NM_001165963.1(
SCN1A
):c.4513A>C;(p.K1505Q)
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: 4513A>C
PubMed Link:
34917021
Variant Present in the following documents:
Main text
fneur-12-784892.pdf
View BVdb publication page