SCN5A c.4498C>G ;(p.L1500V)

Variant ID: 3-38597188-G-C

NM_000335.4(SCN5A):c.4498C>G;(p.L1500V)

This variant was identified in 4 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: rs199473266
PubMed Link: 35956023
Variant Present in the following documents:
  • jcm-11-04406.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: rs199473266
PubMed Link: 34546463
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2370.pdf
View BVdb publication page



Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine
Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-06-16

Variant appearance in text: rs199473266
PubMed Link: 34135346
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_211.pdf
  • 41525_2021_211_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs199473266
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page