CETP
This page contains an overview of the genetic variation in the CETP 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:
CETP gene and transcript details
Gene Name
cholesteryl ester transfer protein, plasma
Gene Links
Ensembl: ENSG00000087237 -
Locus Reference Genomic:
Genomic Location
Chromosome 16 : 56,995,892 - 57,017,578 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1479 bases) | Protein (493 aa) |
|---|---|---|
 |
ENST00000200676 | ENSP00000200676 |
 |
||
 |
NM_000078.2 | |
 |
P11597 |
Summary of CETP in Cardiomyopathies
CETP variants in ExAC
Details of the protein-altering CETP 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 | 271 | 0.00437 |
| Truncating | 35 | 0.00051 |
| Missense | 187 | 0.00316 |
| Inframe | 0 | 0.00000 |
| Splice Site | 49 | 0.00070 |