Bibliome.ai browser hg19
Search
About
Stats
FAQ
SCN1A c.428T>C ;(p.V143A)
Variant ID: 2-166912966-A-G
NM_001165963.1(
SCN1A
):c.428T>C;(p.V143A)
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:
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.
Case Reports In Medicine
Alame, Saada S; El-Houwayek, Eliane E; Nava, Caroline C; Sabbagh, Sandra S; Fawaz, Ali A; Gillart, Anne-Celine AC; Hasbini, Dana D; Depienne, Christel C; Mégarbané, André A
Publication Date: 2019
Variant appearance in text: SCN1A: 428T>C
PubMed Link:
30805006
Variant Present in the following documents:
Main text
CRIM2019-5270503.pdf
View BVdb publication page