KCNH2 c.2504G>C ;(p.R835P)

Variant ID: 7-150646032-C-G

NM_000238.3(KCNH2):c.2504G>C;(p.R835P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.

Clinical And Translational Medicine
Oliveira-Mendes, Barbara B; Feliciangeli, Sylvain S; Ménard, Mélissa M; Chatelain, Frank F; Alameh, Malak M; Montnach, Jérôme J; Nicolas, Sébastien S; Ollivier, Béatrice B; Barc, Julien J; Baró, Isabelle I; Schott, Jean-Jacques JJ; Probst, Vincent V; Kyndt, Florence F; Denjoy, Isabelle I; Lesage, Florian F; Loussouarn, Gildas G; De Waard, Michel M
Publication Date: 2021-11

Variant appearance in text: LQT2: 2504G>C
PubMed Link: 34841674
Variant Present in the following documents:
  • Main text
  • CTM2-11-e609-s001.pdf
  • CTM2-11-e609.pdf
View BVdb publication page