KCNH2 c.1738G>C ;(p.D580H)

Variant ID: 7-150648743-C-G

NM_000238.3(KCNH2):c.1738G>C;(p.D580H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.

Frontiers In Cardiovascular Medicine
Tse, Gary G; Lee, Sharen S; Zhou, Jiandong J; Liu, Tong T; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Cheng, Shuk Han SH; Wong, Wing Tak WT
Publication Date: 2021

Variant appearance in text: KCNH2: 1738G>C
PubMed Link: 33614747
Variant Present in the following documents:
  • Main text
  • fcvm-08-608592.pdf
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: KCNH2: D580H
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM1_ESM.xls, sheet 1
  • 13059_2015_693_MOESM2_ESM.xls, sheet 1
View BVdb publication page