KCNH2 c.1126_1127delinsTC ;(p.Q376S)

Variant ID: 7-150654380-TG-GA

NM_000238.3(KCNH2):c.1126_1127delinsTC;(p.Q376S)

This variant was identified in 2 publications

View GRCh38 version.




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: Q376s
PubMed Link: 37324772
Variant Present in the following documents:
  • JOA3-39-430.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: Q376s
PubMed Link: 27707468
Variant Present in the following documents:
  • Main text
View BVdb publication page