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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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