SCN1A c.1186G>C ;(p.G396R)

Variant ID: 2-166903471-C-G

NM_001165963.1(SCN1A):c.1186G>C;(p.G396R)

This variant was identified in 3 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: G396R
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Halvorsen, Matthew M; Gould, Laura L; Wang, Xiaohan X; Grant, Gariel G; Moya, Raquel R; Rabin, Rachel R; Ackerman, Michael J MJ; Tester, David J DJ; Lin, Peter T PT; Pappas, John G JG; Maurano, Matthew T MT; Goldstein, David B DB; Tsien, Richard W RW; Devinsky, Orrin O
Publication Date: 2021-12-28

Variant appearance in text: SCN1A: 1186G>C
PubMed Link: 34930847
Variant Present in the following documents:
  • pnas.202115140.pdf
View BVdb publication page



De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Halvorsen, Matthew M; Gould, Laura L; Wang, Xiaohan X; Grant, Gariel G; Moya, Raquel R; Rabin, Rachel R; Ackerman, Michael J MJ; Tester, David J DJ; Lin, Peter T PT; Pappas, John G JG; Maurano, Matthew T MT; Goldstein, David B DB; Tsien, Richard W RW; Devinsky, Orrin O
Publication Date: 2021-12-28

Variant appearance in text: SCN1A: 1186G>C
PubMed Link: 34930847
Variant Present in the following documents:
  • pnas.202115140.pdf
View BVdb publication page



Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: SCN1A: 1186G>C
PubMed Link: 24136861
Variant Present in the following documents:
  • Main text
View BVdb publication page