LRP1
This page contains an overview of the genetic variation in the LRP1 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:
LRP1 gene and transcript details
Gene Name
low density lipoprotein receptor-related protein 1
Gene Links
Ensembl: ENSG00000123384 -
Locus Reference Genomic:
Genomic Location
Chromosome 12 : 57,522,748 - 57,606,338 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (13632 bases) | Protein (4544 aa) |
|---|---|---|
 |
ENST00000243077 | ENSP00000243077 |
 |
||
 |
NM_002332.2 | |
 |
Q07954 |
Summary of LRP1 in Cardiomyopathies
LRP1 variants in ExAC
Details of the protein-altering LRP1 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 | 1341 | 0.02259 |
| Truncating | 6 | 0.00004 |
| Missense | 1120 | 0.01856 |
| Inframe | 9 | 0.00012 |
| Splice Site | 206 | 0.00389 |