KCNQ1 c.757_758delinsAA ;(p.S253N)

Variant ID: 11-2593316-TC-AA

NM_000218.2(KCNQ1):c.757_758delinsAA;(p.S253N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: KCNQ1: 757_758delTCinsAA; Ser253Asn
PubMed Link: 34546463
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2370.pdf
View BVdb publication page



Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.

Frontiers In Pediatrics
Sarquella-Brugada, Georgia G; García-Algar, Oscar O; Zambrano, María Dolores MD; Fernández-Falgueres, Anna A; Sailer, Sebastian S; Cesar, Sergi S; Sebastiani, Giorgia G; Martí-Almor, Julio J; Aurensanz, Esther E; Cruzalegui, Jose Carlos JC; Merchan, Erika Fernanda EF; Coll, Mónica M; Pérez-Serra, Alexandra A; Del Olmo, Bernat B; Fiol, Victoria V; Iglesias, Anna A; Ferrer-Costa, Carles C; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Arbelo, Elena E; Jordà, Paloma P; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O
Publication Date: 2021

Variant appearance in text: KCNQ1: 757_758delTCinsAA; Ser253Asn
PubMed Link: 34395343
Variant Present in the following documents:
  • Main text
  • fped-09-704580.pdf
View BVdb publication page