CETP Chromosome 16
Cholesteryl ester transfer protein
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What This Gene Does
The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Gene Info
Gene Group
BPI fold containing
Locus Type
gene with protein product
Location
16q13
Ensembl
ENSG00000087237
Associated Conditions (3)
High density lipoprotein cholesterol level quantitative trait locus 10
Hyperalphalipoproteinemia 1
CETP-related disorder
Key Variants
RS183130
association
High density lipoprotein cholesterol level quantitative trait locus 10, High density lipoprotein cholesterol level quantitative trait locus 10
Health Risk
RS138725242
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS140547417
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS142750310
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS144460063
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS145141976
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS201234837
Conflicting classifications of pathogenicity
Health Risk
RS201503514
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS2303790
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS371258270
Conflicting classifications of pathogenicity
Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
Health Risk
RS5887
Conflicting classifications of pathogenicity
Health Risk
RS767196975
Conflicting classifications of pathogenicity
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS183130 | Health Risk | association | High density lipoprotein cholesterol level quantitative trait locus 10, High density lipoprotein cholesterol level quantitative trait locus 10 |
| RS138725242 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS140547417 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS142750310 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS144460063 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS145141976 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS201234837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201503514 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS2303790 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS371258270 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS5887 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767196975 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767971569 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS771585518 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778814831 | Health Risk | Conflicting classifications of pathogenicity | Hyperalphalipoproteinemia 1, CETP-related disorder, Hyperalphalipoproteinemia 1 |
| RS2543643952 | Health Risk | Likely pathogenic | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS575020601 | Health Risk | Likely pathogenic | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS780627434 | Health Risk | Likely pathogenic | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS1567476573 | Health Risk | Pathogenic | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS2056091646 | Health Risk | Pathogenic | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS2142001776 | Health Risk | Pathogenic | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |
| RS753876598 | Health Risk | Pathogenic | — |
| RS5742907 | Health Risk | Pathogenic/Likely pathogenic | Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1 |