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KCNH2 c.1877G>A ;(p.G626D)
Variant ID: 7-150648604-C-T
NM_000238.3(
KCNH2
):c.1877G>A;(p.G626D)
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:
Molecular Pathophysiology of Congenital Long QT Syndrome.
Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01
Variant appearance in text: LQT2: G626D
PubMed Link:
27807201
Variant Present in the following documents:
Main text
View BVdb publication page
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24
Variant appearance in text: LQT2: G626D
PubMed Link:
25417810
Variant Present in the following documents:
Main text
nihms634670.pdf
View BVdb publication page