LDLR

low density lipoprotein receptor

Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]

Known Variants2,348 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1724872019:11,198,187C/T—benign
rs1724872719:11,198,502T/Cupstream gene variant—
rs3621892319:11,199,486C/Tregulatory region variant—
rs98930706019:11,199,939C/G—uncertain significance
rs1724913419:11,199,957G/T—likely benign
rs37671333719:11,199,997G/C—uncertain significance
rs155580061219:11,199,998G/C—uncertain significance
rs251590596919:11,200,005A/T—uncertain significance
rs1724914119:11,200,008C/G—uncertain significance
rs87925436019:11,200,010A/G—uncertain significance
rs87925436119:11,200,017A/T—uncertain significance
rs251590601419:11,200,018T/C—uncertain significance
rs54999583719:11,200,019C/T—uncertain significance
rs131025741119:11,200,020G/T—likely benign
rs251590602919:11,200,022C/T—uncertain significance
rs207705431019:11,200,028G/A—likely benign
rs251590606219:11,200,032C/G—uncertain significance
rs93441502819:11,200,034C/A—conflicting classifications of pathogenicity
rs207705442819:11,200,035C/T—uncertain significance
rs87885402319:11,200,037C/T—uncertain significance
rs207705446619:11,200,038C/T—uncertain significance
rs251590610919:11,200,040C/T—uncertain significance
rs251590611719:11,200,047T/C—uncertain significance
rs251590612519:11,200,048G/T—uncertain significance
rs155580062919:11,200,053G/A—pathogenic
rs123017059719:11,200,056G/C—uncertain significance
rs105751964719:11,200,057A/G—pathogenic
rs123826244419:11,200,059A/C—uncertain significance
rs93401411319:11,200,063G/C—uncertain significance
rs251590619019:11,200,067A/T—uncertain significance
rs87925436419:11,200,069C/T—pathogenic
rs105751964819:11,200,070——pathogenic
rs87925436619:11,200,072C/T—uncertain significance
rs87925436719:11,200,073C/T—pathogenic
rs155580063119:11,200,074C/G—pathogenic
rs155580063219:11,200,075A/G—pathogenic
rs87925436819:11,200,076C/A—likely pathogenic
rs87925436919:11,200,079C/A—uncertain significance
rs87925437019:11,200,083C/T—uncertain significance
rs87598988719:11,200,085C/A—uncertain significance
rs87925437119:11,200,086C/T—uncertain significance
rs87925437219:11,200,087T/C—uncertain significance
rs38790630719:11,200,087——pathogenic
rs87925437319:11,200,088C/T—uncertain significance
rs87925437419:11,200,089C/T—pathogenic
rs87925437519:11,200,090C/A—uncertain significance
rs207705522719:11,200,092C/T—uncertain significance
rs251590634819:11,200,097A/G—uncertain significance
rs132254974419:11,200,102C/T—uncertain significance
rs156858229919:11,200,103C/T—uncertain significance
rs77771618819:11,200,104T/C—pathogenic
rs87598988619:11,200,105C/A—uncertain significance
rs251590639719:11,200,106A/C—uncertain significance
rs251590640919:11,200,108A/G—uncertain significance
rs214718610819:11,200,109T/C—uncertain significance
rs116487141919:11,200,110T/G—uncertain significance
rs156858231019:11,200,118T/C—uncertain significance
rs251590645019:11,200,122A/T—uncertain significance
rs135753164619:11,200,123A/G—uncertain significance
rs74706884819:11,200,124T/C—uncertain significance
rs105751965019:11,200,126A/G—pathogenic
rs155580064819:11,200,127C/T—pathogenic
rs94458003119:11,200,128G/A—pathogenic
rs121211663619:11,200,131G/T—uncertain significance
rs251590654919:11,200,136C/T—uncertain significance
rs87925437619:11,200,137G/A—uncertain significance
rs124732270219:11,200,145T/C—uncertain significance
rs87925437719:11,200,157A/C—uncertain significance
rs103898882519:11,200,162T/C—uncertain significance
rs251590669919:11,200,169T/C—uncertain significance
rs37180037019:11,200,177A/G—uncertain significance
rs76923537119:11,200,179C/A—uncertain significance
rs214718624019:11,200,180A/T—uncertain significance
rs87925437819:11,200,189T/G—uncertain significance
rs113169218819:11,200,197G/C—likely benign
rs93050918719:11,200,199G/T—uncertain significance
rs75046265319:11,200,200A/T—uncertain significance
rs76328238019:11,200,202A/C—conflicting classifications of pathogenicity
rs251590691919:11,200,203C/T—uncertain significance
rs207705650419:11,200,207C/T—uncertain significance
rs87925438019:11,200,211C/A—uncertain significance
rs37601161819:11,200,212A/G—uncertain significance
rs214718638319:11,200,217C/A—likely pathogenic
rs87925438119:11,200,220C/T—uncertain significance
rs75477179819:11,200,221G/A—uncertain significance
rs87925438219:11,200,225A/Tmissense variantpathogenic
rs155580070119:11,200,226T/C—likely pathogenic
rs87925438319:11,200,227G/Tmissense variantpathogenic
rs593119:11,200,228G/A—uncertain significance
rs251590713419:11,200,230G/A—likely benign
rs207705712919:11,200,231C/A—uncertain significance
rs214718645319:11,200,233C/T—likely benign
rs20101659319:11,200,235G/Astop gainedpathogenic
rs75603918819:11,200,236G/Astop gainedpathogenic
rs251590723519:11,200,239C/T—likely benign
rs207705731819:11,200,241G/A—pathogenic
rs251590726619:11,200,242G/A—likely pathogenic
rs251590729319:11,200,247T/A—pathogenic
rs207705743619:11,200,251C/T—likely benign
rs87925438619:11,200,252T/Cmissense variantpathogenic

Showing 100 of 2,348 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.