SCN1A c.4456T>G ;(p.F1486V)

Variant ID: 2-166854568-A-C

NM_001165963.1(SCN1A):c.4456T>G;(p.F1486V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; BrĂ¼nger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN1A: F1486V
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Clinical genome sequencing in an unbiased pediatric cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thiffault, Isabelle I; Farrow, Emily E; Zellmer, Lee L; Berrios, Courtney C; Miller, Neil N; Gibson, Margaret M; Caylor, Raymond R; Jenkins, Janda J; Faller, Deb D; Soden, Sarah S; Saunders, Carol C
Publication Date: 2019-02

Variant appearance in text: SCN1A: 4456T>G; F1486V
PubMed Link: 30008475
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_75.pdf
View BVdb publication page