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KCNH2 c.1330G>A ;(p.E444K)
Variant ID: 7-150649740-C-T
NM_000238.3(
KCNH2
):c.1330G>A;(p.E444K)
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:
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: E444K; rs201268831
PubMed Link:
37324772
Variant Present in the following documents:
Main text
JOA3-39-430.pdf
View BVdb publication page
Atrial fibrillation-a complex polygenetic disease.
European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07
Variant appearance in text: KCNH2: 1330G>A; Glu444Lys
PubMed Link:
33279945
Variant Present in the following documents:
41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
PHARMIP: An insilico method to predict genetics that underpin adverse drug reactions.
Methodsx
Zidan, Ahmad M AM; Saad, Eman A EA; Ibrahim, Nasser E NE; Mahmoud, Amal A; Hashem, Medhat H MH; Hemeida, Alaa A AA
Publication Date: 2020
Variant appearance in text: rs201268831
PubMed Link:
32123669
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Atrial fibrillation: the role of common and rare genetic variants.
European Journal Of Human Genetics : Ejhg
Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH
Publication Date: 2014-03
Variant appearance in text: KCNH2: 1330G>A; Glu444Lys
PubMed Link:
23838598
Variant Present in the following documents:
Main text
View BVdb publication page
Repolarization recipes for atrial fibrillation: beyond single channel variants.
Journal Of The American College Of Cardiology
Darbar, Dawood D; Parvez, Babar B; Abraham, Robert R
Publication Date: 2012-03-13
Variant appearance in text: KCNH2: E444K
PubMed Link:
22402075
Variant Present in the following documents:
Main text
View BVdb publication page