KCNH2 c.1877G>A ;(p.G626D)

Variant ID: 7-150648604-C-T

NM_000238.3(KCNH2):c.1877G>A;(p.G626D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01

Variant appearance in text: LQT2: G626D
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24

Variant appearance in text: LQT2: G626D
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
View BVdb publication page