KCNH2 c.3115G>T ;(p.E1039*)

Variant ID: 7-150644453-C-A

NM_000238.3(KCNH2):c.3115G>T;(p.E1039*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: KCNH2: E1039*
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.

Scientific Reports
Wu, Jie J; Mizusawa, Yuka Y; Ohno, Seiko S; Ding, Wei-Guang WG; Higaki, Takashi T; Wang, Qi Q; Kohjitani, Hirohiko H; Makiyama, Takeru T; Itoh, Hideki H; Toyoda, Futoshi F; James, Andrew F AF; Hancox, Jules C JC; Matsuura, Hiroshi H; Horie, Minoru M
Publication Date: 2018-02-15

Variant appearance in text: LQT2: E1039X
PubMed Link: 29449639
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_21442.pdf
View BVdb publication page