KCNH2 c.3110A>T ;(p.D1037V)

Variant ID: 7-150644458-T-A

NM_000238.3(KCNH2):c.3110A>T;(p.D1037V)

This variant was identified in 4 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: 3110A>T
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page


Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association
Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J
Publication Date: 2018-03-03

Variant appearance in text: KCNH2: D1037V
PubMed Link: 29502107
Variant Present in the following documents:
  • Main text
  • JAH3-7-e007837-s001.pdf
  • JAH3-7-e007837.pdf
View BVdb publication page


Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.

Journal Of The American Heart Association
Huang, Lei L; Wu, Kuo-Ho KH; Zhang, Liyong L; Wang, Qinchuan Q; Tang, Shuangbo S; Wu, Qiuping Q; Jiang, Pei-Hsiu PH; Lin, Jim Jung-Ching JJ; Guo, Jian J; Wang, Lin L; Loh, Shih-Hurng SH; Cheng, Jianding J
Publication Date: 2018-01-06

Variant appearance in text: KCNH2: 3110A>T; D1037V
PubMed Link: 29306897
Variant Present in the following documents:
  • Main text
  • JAH3-7-e006320.pdf
View BVdb publication page


Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Mayo Clinic Proceedings
Zhang, Liyong L; Tester, David J DJ; Lang, Di D; Chen, Yili Y; Zheng, Jinxiang J; Gao, Rui R; Corliss, Robert F RF; Tang, Shuangbo S; Kyle, John W JW; Liu, Chao C; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Cheng, Jianding J
Publication Date: 2016-11

Variant appearance in text: KCNH2: 3110A>T; Asp1037Val
PubMed Link: 27707468
Variant Present in the following documents:
  • Main text
View BVdb publication page