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 4092
Unique public DNA variants reported 2246
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 March 18, 2024
Version LDLR:240318

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 https://www.LOVD.nl/LDLR
HGNC 6547
Entrez Gene 3949
PubMed articles LDLR
OMIM - Gene 606945
OMIM - Diseases FHCL1 (hypercholesterolemia, familial, type 1 (FHCL1))
HGMD LDLR
GeneCards LDLR
GeneTests LDLR
Orphanet LDLR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011039 19 transcript variant 1 NM_000527.4 NP_000518.1 4092


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 © 2011-2024. 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.

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