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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.

LDLR @ www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
General information
Gene name: Low Density Lipoprotein Receptor
Gene symbol: LDLR
Chromosome Location: 19p13.2
Database location: www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
Curator: Sarah Leigh
Date of creation: March 12, 2007
Last update: January 14, 2011
Version: LDLR110114
Add allelic variant: Submit an allelic variant
First time submitters: Register here
Genomic reference sequence: LDLR reference sequence for describing allelic variants
Total number of allelic variants: 1741
Number of unique allelic variants: 1122
NOTE: When referring to this database please cite Leigh et al (2008) Ann Hum Genet 72, 485-498 (see link below). 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.

Allelic variant tables
Complete allelic variant table: Listing of all allelic variants in the LDLR database
Summary tables: Summary of all allelic variants in the LDLR database, sorted by type of variant (with graphical displays and statistics)
Polymorphism table: Listing of all LDLR 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:
Homepage http://www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
Other link UCL LDLR FH database 2001
Other link Leigh et al (2008)
Other link BRITISH HEART FOUNDATION
Entrez Gene (LocusLink) 3949
OMIM - gene 606945
OMIM - disease 143890 (FH)
HGMD LDLR

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