LIPI
This page contains an overview of the genetic variation in the LIPI 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:
LIPI gene and transcript details
Gene Name
lipase, member I
Gene Links
Ensembl: ENSG00000188992 -
Locus Reference Genomic:
Genomic Location
Chromosome 21 : 15,481,314 - 15,579,244 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1443 bases) | Protein (481 aa) |
|---|---|---|
 |
ENST00000344577 | ENSP00000343331 |
 |
||
 |
NM_198996.2 | |
 |
Summary of LIPI in Cardiomyopathies
LIPI variants in ExAC
Details of the protein-altering LIPI 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 | 218 | 0.00328 |
| Truncating | 19 | 0.00024 |
| Missense | 178 | 0.00274 |
| Inframe | 2 | 0.00001 |
| Splice Site | 19 | 0.00030 |