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KCNH2 c.2669C>G ;(p.S890C)
Variant ID: 7-150645555-G-C
NM_000238.3(
KCNH2
):c.2669C>G;(p.S890C)
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:
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06
Variant appearance in text: KCNH2: 2669C>G
PubMed Link:
37324772
Variant Present in the following documents:
Main text
JOA3-39-430.pdf
View BVdb publication page
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
European Journal Of Human Genetics : Ejhg
Riuró, Helena H; Campuzano, Oscar O; Berne, Paola P; Arbelo, Elena E; Iglesias, Anna A; Pérez-Serra, Alexandra A; Coll-Vidal, Mònica M; Partemi, Sara S; Mademont-Soler, Irene I; Picó, Ferran F; Allegue, Catarina C; Oliva, Antonio A; Gerstenfeld, Edward E; Sarquella-Brugada, Georgia G; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Mont, Lluís L; Brugada, Josep J; Scornik, Fabiana S FS; Brugada, Ramon R
Publication Date: 2015-01
Variant appearance in text: KCNH2: Ser890Cys
PubMed Link:
24667783
Variant Present in the following documents:
Main text
View BVdb publication page