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When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.

PCSK9 @ www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
General information
Gene name: proprotein convertase subtilisin/kexin type 9
Gene symbol: PCSK9
Chromosome Location: 1p32.3
Database location: www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
Curator: Sarah Leigh
Date of creation: July 04, 2008
Last update: February 10, 2011
Version: PCSK9 110210
Add allelic variant: Submit an allelic variant
First time submitters: Register here
coding DNA reference sequence: PCSK9 reference sequence for describing allelic variants
Total number of allelic variants: 163
Number of unique allelic variants: 101
NOTE: When citing this database please quote Leigh et al 2009, Atherosclerosis 203, 32-33. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon University College London or any of it's employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. If you find any errors or omissions, please contact the curator and every effort will be made to rectify the situation. Gene Alias: NARC-1, FH3

Allelic variant tables
Complete allelic variant table: Listing of all allelic variants in the PCSK9 database
Summary tables: Summary of all allelic variants in the PCSK9 database, sorted by type of variant (with graphical displays and statistics)
Polymorphism table: Listing of all PCSK9 variants reported to have no noticeable phenotypic effect

Search the database
By type of variant: View allelic variant table after selecting one type of variant
Simple search: Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search: Query the database by selecting a combination of variables

Links to other resources:
Other link British Heart Foundation
Other link Leigh et al 2009 Atherosclerosis 203 32-33
Entrez Gene (LocusLink) 255738
OMIM - gene 607786
OMIM - disease 603776 (FH3)
HGMD PCSK9

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