KCNH2 c.1680C>T ;(p.I560=)

Variant ID: 7-150648801-G-A

NM_000238.3(KCNH2):c.1680C>T;(p.I560=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine
Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2019-07-16

Variant appearance in text: rs372725107
PubMed Link: 31315195
Variant Present in the following documents:
  • Main text
  • jcm-08-01035.pdf
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: rs372725107
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page