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KCNQ1 c.1566C>G ;(p.Y522*)
Variant ID: 11-2790125-C-G
NM_000218.2(
KCNQ1
):c.1566C>G;(p.Y522*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic analysis, in silico prediction, and family segregation in long QT syndrome.
European Journal Of Human Genetics : Ejhg
Riuró, Helena H; Campuzano, Oscar O; Berne, Paola P; Arbelo, Elena E; Iglesias, Anna A; Pérez-Serra, Alexandra A; Coll-Vidal, Mònica M; Partemi, Sara S; Mademont-Soler, Irene I; Picó, Ferran F; Allegue, Catarina C; Oliva, Antonio A; Gerstenfeld, Edward E; Sarquella-Brugada, Georgia G; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Mont, Lluís L; Brugada, Josep J; Scornik, Fabiana S FS; Brugada, Ramon R
Publication Date: 2015-01
Variant appearance in text: KCNQ1: Tyr522*
PubMed Link:
24667783
Variant Present in the following documents:
Main text
View BVdb publication page