The LDLR gene homepage

General information
Gene symbol LDLR
Gene name low density lipoprotein receptor
Chromosome 19
Chromosomal band p13.2
Imprinted Unknown
Genomic reference LRG_274
Transcript reference NM_000527.4
Exon/intron information NM_000527.4 exon/intron table
Associated with diseases FH, FHCL1
Citation reference(s) PubMed: Leigh et al, 2017 "The UCL low-density lipoprotein receptor gene variant database, pathogenicity update"
Refseq URL Genomic reference sequence
Curators (1) Sarah Leigh
Total number of public variants reported 4071
Unique public DNA variants reported 2237
Individuals with public variants 3396
Hidden variants 8
Notes databases from the FH UCL BHF
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 14, 2011
Date last updated November 27, 2023
Version LDLR:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000527.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 6547
Entrez Gene 3949
PubMed articles LDLR
OMIM - Gene 606945
OMIM - Diseases FHCL1 (hypercholesterolemia, familial, type 1 (FHCL1))
GeneCards LDLR
GeneTests LDLR
Orphanet LDLR

Active transcripts




NCBI ID     

NCBI Protein ID     

00011039 19 transcript variant 1 NM_000527.4 NP_000518.1 4071

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their 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.