SCN5A c.2302A>G ;(p.I768V)

Variant ID: 3-38629025-T-C

NM_000335.4(SCN5A):c.2302A>G;(p.I768V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome.

Plos One
Martínez-Campelo, Laura L; Cruz, Raquel R; Blanco-Verea, Alejandro A; Moscoso, Isabel I; Ramos-Luis, Eva E; Lage, Ricardo R; Álvarez-Barredo, María M; Sabater-Molina, María M; Peñafiel-Verdú, Pablo P; Jiménez-Jáimez, Juan J; Rodríguez-Mañero, Moisés M; Brion, María M
Publication Date: 2022

Variant appearance in text: SCN5A: 2302A>G
PubMed Link: 35231055
Variant Present in the following documents:
  • Main text
  • pone.0263469.pdf
View BVdb publication page



Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Human Genetics
Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Cesar, Sergi S; Arbelo, Elena E; Coll, Mónica M; Perez-Serra, Alexandra A; Puigmulé, Marta M; Iglesias, Anna A; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Fiol, Victoria V; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Picó, Ferran F; Lopez, Laura L; García-Alvarez, Ana A; Jordà, Paloma P; Tiron de Llano, Coloma C; Toro, Rocío R; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O
Publication Date: 2022-10

Variant appearance in text: SCN5A: 2302A>G; Ile768Val
PubMed Link: 34546463
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2370.pdf
View BVdb publication page