Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNH2 c.1843C>T ;(p.L615F)
Variant ID: 7-150648638-G-A
NM_000238.3(
KCNH2
):c.1843C>T;(p.L615F)
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: 1843C>T; rs199472945
PubMed Link:
37324772
Variant Present in the following documents:
Main text
JOA3-39-430.pdf
View BVdb publication page
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022
Variant appearance in text: KCNH2: L615F
PubMed Link:
36339618
Variant Present in the following documents:
fphar-13-1010119.pdf
View BVdb publication page
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022
Variant appearance in text: LQT2: L615F
PubMed Link:
36277779
Variant Present in the following documents:
Data_Sheet_1.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: Leu615Phe
PubMed Link:
35281812
Variant Present in the following documents:
Main text
fgene-13-821226.pdf
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: L615F
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
View BVdb publication page