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KCNH2 c.1843C>G ;(p.L615V)
Variant ID: 7-150648638-G-C
NM_000238.3(
KCNH2
):c.1843C>G;(p.L615V)
This variant was identified in 6 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: rs199472945
PubMed Link:
37324772
Variant Present in the following documents:
JOA3-39-430.pdf
View BVdb publication page
Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.
Frontiers In Genetics
Sun, Hairui H; Liu, Xiaowei X; Hao, Xiaoyan X; Zhou, Xiaoxue X; Wang, Jingyi J; Han, Jiancheng J; Liang, Mengmeng M; Zhang, Hongjia H; He, Yihua Y
Publication Date: 2022
Variant appearance in text: KCNH2: Leu615Val
PubMed Link:
35281812
Variant Present in the following documents:
Main text
fgene-13-821226.pdf
View BVdb publication page
Connexin 43 and CaV1.2 Ion Channel Trafficking in Healthy and Diseased Myocardium.
Circulation. Arrhythmia And Electrophysiology
Basheer, Wassim A WA; Shaw, Robin M RM
Publication Date: 2016-06
Variant appearance in text: LQT2: L615V
PubMed Link:
27266274
Variant Present in the following documents:
Main text
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: KCNH2: L615V
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: KCNH2: L615V
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Journal Of Cardiovascular Pharmacology
Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT
Publication Date: 2010-08
Variant appearance in text: LQT2: L615V
PubMed Link:
20224422
Variant Present in the following documents:
Main text
View BVdb publication page