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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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