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KCNH2 c.150G>T ;(p.E50D)
Variant ID: 7-150671956-C-A
NM_000238.3(
KCNH2
):c.150G>T;(p.E50D)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.
Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences
Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H
Publication Date: 2023-06-19
Variant appearance in text: KCNH2: E50D
PubMed Link:
37122211
Variant Present in the following documents:
Main text
rstb.2022.0165.pdf
View BVdb publication page
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Journal Of Clinical Medicine
Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà , Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2019-07-16
Variant appearance in text: KCNH2: Glu50Asp; rs199472841
PubMed Link:
31315195
Variant Present in the following documents:
Main text
View BVdb publication page
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.
Heliyon
Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2019-04
Variant appearance in text: LQT2: E50D
PubMed Link:
31049424
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Recent Advances in Short QT Syndrome.
Frontiers In Cardiovascular Medicine
Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2018
Variant appearance in text: KCNH2: E50D
PubMed Link:
30420954
Variant Present in the following documents:
Main text
fcvm-05-00149.pdf
View BVdb publication page
Rapid genetic testing facilitating the diagnosis of short QT syndrome.
The Canadian Journal Of Cardiology
Redpath, Calum J CJ; Green, Martin S MS; Birnie, David H DH; Gollob, Michael H MH
Publication Date: 2009-04
Variant appearance in text: KCNH2: Glu50Asp
PubMed Link:
19340359
Variant Present in the following documents:
Main text
View BVdb publication page