LPL
This page contains an overview of the genetic variation in the LPL 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:
LPL gene and transcript details
Gene Name
lipoprotein lipase
Gene Links
Ensembl: ENSG00000175445 -
Locus Reference Genomic:
Genomic Location
Chromosome 8 : 19,796,952 - 19,822,821 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1425 bases) | Protein (475 aa) |
|---|---|---|
 |
ENST00000311322 | ENSP00000309757 |
 |
||
 |
NM_000237.2 | |
 |
P06858 |
Summary of LPL in Cardiomyopathies
LPL variants in ExAC
Details of the protein-altering LPL 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 | 224 | 0.00321 |
| Truncating | 16 | 0.00014 |
| Missense | 186 | 0.00278 |
| Inframe | 1 | 0.00001 |
| Splice Site | 21 | 0.00028 |