KCNH2 c.643del ;(p.V215*)

Variant ID: 7-150655420-AC-A

NM_000238.3(KCNH2):c.643del;(p.V215*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Bmc Medical Genetics
Koponen, Mikael M; Havulinna, Aki S AS; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Salomaa, Veikko V; Laitinen-Forsblom, Päivi J PJ; Piippo, Kirsi K; Toivonen, Lauri L; Kontula, Kimmo K; Viitasalo, Matti M; Swan, Heikki H
Publication Date: 2018-04-05

Variant appearance in text: KCNH2: 643delG
PubMed Link: 29622001
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_574.pdf
View BVdb publication page