CETP

cholesteryl ester transfer protein

Summary

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]

Known Variants262 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18313016:56,991,363C/Tupstream gene variantassociation
rs82184016:56,993,886A/Gupstream gene variant—
rs1244792416:56,994,192C/Tupstream gene variant—
rs1723150616:56,994,528C/G——
rs478396116:56,994,894G/Aupstream gene variant—
rs180077516:56,995,236C/Aupstream gene variant—
rs1723152016:56,995,827G/Adownstream gene variantbenign
rs3411955116:56,995,908T/A—likely benign
rs99118848216:56,995,914C/T—uncertain significance
rs254363323916:56,995,934G/T—uncertain significance
rs3406566116:56,995,935C/Gmissense variantbenign
rs588416:56,995,957C/A—likely benign
rs57403501416:56,995,959C/T—uncertain significance
rs20123483716:56,995,964G/A—conflicting classifications of pathogenicity
rs14211748916:56,995,975C/T—benign
rs74756426416:56,995,976G/A—uncertain significance
rs77158551816:56,995,980G/A—conflicting classifications of pathogenicity
rs77709345516:56,995,982C/T—uncertain significance
rs14775850216:56,995,983G/A—uncertain significance
rs123235682616:56,995,999C/T—likely benign
rs3468078216:56,996,060C/A—likely benign
rs1723153416:56,996,104A/C—benign
rs381611716:56,996,158T/C—benign
rs71175216:56,996,211G/A—benign
rs503070816:56,996,279C/T—likely benign
rs70827216:56,996,288G/Aintron variantbenign
rs3462047616:56,996,649C/A—benign
rs5900884916:56,996,707G/T—likely benign
rs77685785916:56,996,929C/G—uncertain significance
rs78062743416:56,996,963C/T—likely pathogenic
rs14246430116:56,996,985C/T—uncertain significance
rs74671730916:56,996,986G/A—likely benign
rs254363538616:56,996,994A/G—uncertain significance
rs36929478616:56,996,996G/C—uncertain significance
rs76208784216:56,997,003T/A—uncertain significance
rs76778566116:56,997,017G/C—uncertain significance
rs37323510216:56,997,034C/T—uncertain significance
rs37018517816:56,997,044G/A—likely benign
rs78090776916:56,997,051G/A—likely benign
rs993522816:56,997,072A/G—benign
rs186416316:56,997,233G/Aintron variantbenign
rs19298353916:56,997,263G/T—likely benign
rs1272092616:56,998,918A/C——
rs1150802616:56,999,328C/Tregulatory region variant—
rs804585516:57,000,696T/Aintron variant—
rs11814657316:57,000,938G/Aintron variant—
rs478474116:57,001,216C/G——
rs993922416:57,002,732T/C——
rs1270897016:57,003,025G/T—likely benign
rs6053146616:57,003,043C/T—benign
rs1107617416:57,003,146C/T—benign
rs37118091716:57,003,303A/G—uncertain significance
rs254364384116:57,003,306T/A—uncertain significance
rs77905292816:57,003,323G/A—uncertain significance
rs205609164616:57,003,332C/T—pathogenic
rs205609189716:57,003,357C/G—uncertain significance
rs76571670316:57,003,375A/G—uncertain significance
rs14774099316:57,003,376G/A—likely benign
rs205609215316:57,003,378A/G—uncertain significance
rs76319408216:57,003,379C/T—likely benign
rs37125827016:57,003,380G/A—conflicting classifications of pathogenicity
rs92168411716:57,003,401A/T—uncertain significance
rs75829426116:57,003,422A/G—uncertain significance
rs1270897116:57,003,461T/C—likely benign
rs37699554716:57,003,507C/T—likely benign
rs254364449716:57,003,511G/A—uncertain significance
rs205609365416:57,003,513C/T—likely benign
rs14051808216:57,003,537A/T—uncertain significance
rs77550851116:57,003,545G/A—uncertain significance
rs87984832616:57,003,550C/T—likely benign
rs143352092316:57,003,593A/C—uncertain significance
rs20085541216:57,003,604A/C—benign
rs89114116:57,003,723G/T—benign
rs37225101116:57,003,818C/G—benign
rs77881483116:57,003,829G/A—conflicting classifications of pathogenicity
rs77264494916:57,003,836T/C—likely benign
rs55473845516:57,003,837G/A—uncertain significance
rs254364539916:57,003,844T/G—uncertain significance
rs124216241016:57,003,845G/A—likely benign
rs3471605716:57,003,846C/T—likely benign
rs18461518216:57,003,847G/A—uncertain significance
rs20177860616:57,003,852G/A—likely benign
rs156747138816:57,003,906G/A—uncertain significance
rs214199753416:57,003,911A/C—uncertain significance
rs205609842916:57,003,918G/A—uncertain significance
rs89114216:57,003,977T/C—benign
rs89114316:57,003,980T/C—benign
rs1272086216:57,004,747A/G—benign
rs720580416:57,004,889A/G—benign
rs20149055816:57,004,926T/A—benign
rs205610572116:57,004,934G/T—likely benign
rs75853336316:57,004,945G/A—uncertain significance
rs3461109816:57,004,951G/A—likely benign
rs14275031016:57,004,961C/T—conflicting classifications of pathogenicity
rs254364693316:57,004,966G/A—likely benign
rs74620662916:57,004,979A/G—likely benign
rs254364702316:57,005,013A/T—uncertain significance
rs254364703216:57,005,016T/A—uncertain significance
rs74653910016:57,005,019G/A—uncertain significance
rs75659907816:57,005,215C/T—likely benign

Showing 100 of 262 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.