SCN5A c.50C>T ;(p.T17I)

Variant ID: 3-38674749-G-A

NM_000335.4(SCN5A):c.50C>T;(p.T17I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

Journal Of Clinical Medicine
Oliva, Antonio A; Grassi, Simone S; Pinchi, Vilma V; Cazzato, Francesca F; Coll, Mónica M; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Cesar, Sergi S; Iglesias, Anna A; Cruzalegui, José J; Hernández, Clara C; Fiol, Victoria V; Arbelo, Elena E; Díez-Escuté, Nuria N; Arena, Vincenzo V; Brugada, Josep J; Sarquella-Brugada, Georgia G; Brugada, Ramon R; Campuzano, Oscar O
Publication Date: 2022-07-28

Variant appearance in text: SCN5A: 50C>T
PubMed Link: 35956023
Variant Present in the following documents:
  • jcm-11-04406.pdf
View BVdb publication page



Biventricular Myocardial Fibrosis and Sudden Death in Patients With Brugada Syndrome.

Journal Of The American College Of Cardiology
Miles, Chris C; Asimaki, Angeliki A; Ster, Irina Chis IC; Papadakis, Michael M; Gray, Belinda B; Westaby, Joseph J; Finocchiaro, Gherardo G; Bueno-Beti, Carlos C; Ensam, Bode B; Basu, Joyee J; Parry-Williams, Gemma G; MacLachlan, Hamish H; Edwards, Khari A KA; Johnson, David D; Tome, Maite M; Sharma, Sanjay S; Sheppard, Mary N MN; Behr, Elijah R ER
Publication Date: 2021-10-12

Variant appearance in text: SCN5A: 50C>T; T17I
PubMed Link: 34620408
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page