LDLR
This page contains an overview of the genetic variation in the LDLR gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
LDLR gene and transcript details
Gene Name
low density lipoprotein receptor
Gene Links
Ensembl: ENSG00000130164 -
Locus Reference Genomic: LRG_274
Genomic Location
Chromosome 19 : 11,200,225 - 11,241,992 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2580 bases) | Protein (860 aa) |
|---|---|---|
 |
ENST00000558518 | ENSP00000454071 |
 |
LRG_274t1 | LRG_274p1 |
 |
NM_000527.4 | |
 |
P01130 |
Summary of LDLR in Cardiomyopathies
LDLR variants in ExAC
Details of the protein-altering LDLR variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 456 | 0.00787 |
| Truncating | 37 | 0.00042 |
| Missense | 356 | 0.00657 |
| Inframe | 3 | 0.00006 |
| Splice Site | 60 | 0.00082 |