SCN5A c.1717C>T ;(p.Q573*)

Variant ID: 3-38645376-G-A

NM_000335.4(SCN5A):c.1717C>T;(p.Q573*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine
Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2020-04

Variant appearance in text: SCN5A: 1717C>T; Gln573*
PubMed Link: 32268277
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

Plos One
Selga, Elisabet E; Campuzano, Oscar O; Pinsach-Abuin, Mel Lina ML; Pérez-Serra, Alexandra A; Mademont-Soler, Irene I; Riuró, Helena H; Picó, Ferran F; Coll, Mònica M; Iglesias, Anna A; Pagans, Sara S; Sarquella-Brugada, Georgia G; Berne, Paola P; Benito, Begoña B; Brugada, Josep J; Porres, José M JM; López Zea, Matilde M; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Brugada, Ramon R
Publication Date: 2015

Variant appearance in text: SCN5A: 1717C>T; Q573*
PubMed Link: 26173111
Variant Present in the following documents:
  • Main text
  • pone.0132888.pdf
View BVdb publication page