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KCNH2 c.173A>C ;(p.E58A)
Variant ID: 7-150671933-T-G
NM_000238.3(
KCNH2
):c.173A>C;(p.E58A)
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: 173A>C; rs199472847
PubMed Link:
37324772
Variant Present in the following documents:
Main text
JOA3-39-430.pdf
View BVdb publication page
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ
Publication Date: 2020-10
Variant appearance in text: Kv11.1: E58A
PubMed Link:
32475984
Variant Present in the following documents:
View BVdb publication page
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: LQT2: E58A
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
View BVdb publication page
Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.
Frontiers In Physiology
Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM
Publication Date: 2018
Variant appearance in text: LQT2: E58A
PubMed Link:
29725305
Variant Present in the following documents:
Main text
fphys-09-00397.pdf
View BVdb publication page
Determining the pathogenicity of genetic variants associated with cardiac channelopathies.
Scientific Reports
Campuzano, Oscar O; Allegue, Catarina C; Fernandez, Anna A; Iglesias, Anna A; Brugada, Ramon R
Publication Date: 2015-01-22
Variant appearance in text: KCNH2: E58A
PubMed Link:
25608792
Variant Present in the following documents:
Main text
srep07953.pdf
View BVdb publication page