SCN5A c.2197T>G ;(p.F733V)

Variant ID: 3-38639285-A-C

NM_000335.4(SCN5A):c.2197T>G;(p.F733V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comparing human iPSC-cardiomyocytes versus HEK293T cells unveils disease-causing effects of Brugada mutation A735V of NaV1.5 sodium channels.

Scientific Reports
de la Roche, Jeanne J; Angsutararux, Paweorn P; Kempf, Henning H; Janan, Montira M; Bolesani, Emiliano E; Thiemann, Stefan S; Wojciechowski, Daniel D; Coffee, Michelle M; Franke, Annika A; Schwanke, Kristin K; Leffler, Andreas A; Luanpitpong, Sudjit S; Issaragrisil, Surapol S; Fischer, Martin M; Zweigerdt, Robert R
Publication Date: 2019-08-01

Variant appearance in text: SCN5A: F733V
PubMed Link: 31371804
Variant Present in the following documents:
  • Main text
  • 41598_2019_47632_MOESM1_ESM.pdf
  • 41598_2019_Article_47632.pdf
View BVdb publication page