SCN1A c.4513A>T ;(p.K1505*)

Variant ID: 2-166852591-T-A

NM_001165963.1(SCN1A):c.4513A>T;(p.K1505*)

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: 4513A>T
PubMed Link: 30805006
Variant Present in the following documents:
  • Main text
  • CRIM2019-5270503.pdf
View BVdb publication page