KCNH2 c.305A>T ;(p.D102V)

Variant ID: 7-150671801-T-A

NM_000238.3(KCNH2):c.305A>T;(p.D102V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: LQT2: D102V
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of the congenital long-QT syndrome.

Circulation
Schwartz, Peter J PJ; Stramba-Badiale, Marco M; Crotti, Lia L; Pedrazzini, Matteo M; Besana, Alessandra A; Bosi, Giuliano G; Gabbarini, Fulvio F; Goulene, Karine K; Insolia, Roberto R; Mannarino, Savina S; Mosca, Fabio F; Nespoli, Luigi L; Rimini, Alessandro A; Rosati, Enrico E; Salice, Patrizia P; Spazzolini, Carla C
Publication Date: 2009-11-03

Variant appearance in text: KCNH2: D102V
PubMed Link: 19841298
Variant Present in the following documents:
  • Main text
View BVdb publication page