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KCNH2 c.1851C>G ;(p.F617L)
Variant ID: 7-150648630-G-C
NM_000238.3(
KCNH2
):c.1851C>G;(p.F617L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: LQT2: F617L
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: KCNH2: F617L
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page
Prevalence of the congenital long-QT syndrome.
Circulation
Schwartz, Peter J PJ; Stramba-Badiale, Marco M; Crotti, Lia L; Pedrazzini, Matteo M; Besana, Alessandra A; Bosi, Giuliano G; Gabbarini, Fulvio F; Goulene, Karine K; Insolia, Roberto R; Mannarino, Savina S; Mosca, Fabio F; Nespoli, Luigi L; Rimini, Alessandro A; Rosati, Enrico E; Salice, Patrizia P; Spazzolini, Carla C
Publication Date: 2009-11-03
Variant appearance in text: KCNH2: F617L
PubMed Link:
19841298
Variant Present in the following documents:
Main text
View BVdb publication page