LPL

lipoprotein lipase

Summary

LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]

Known Variants638 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860627838:19,796,653T/G—uncertain significance
rs803510418:19,796,669T/G—conflicting classifications of pathogenicity
rs18005908:19,796,671T/G5 prime UTR variantrisk factor
rs5405252858:19,796,711G/C—pathogenic
rs21288350678:19,796,725T/C—uncertain significance
rs8860627858:19,796,816T/C—uncertain significance
rs13885418628:19,796,851C/T—uncertain significance
rs5595903998:19,796,881C/G—uncertain significance
rs8860627868:19,796,903C/T—uncertain significance
rs8860627878:19,796,914C/G—uncertain significance
rs7636355538:19,796,949G/T—uncertain significance
rs25400921408:19,796,954G/A—likely pathogenic
rs7534727978:19,796,957G/A—likely benign
rs3675927168:19,796,959G/A—uncertain significance
rs9620858238:19,796,960C/T—likely benign
rs5542236278:19,796,966C/T—likely benign
rs20698099088:19,796,969G/T—likely benign
rs11928632848:19,796,972C/A—likely benign
rs25400922018:19,796,982C/T—likely benign
rs20698100538:19,796,984G/T—likely benign
rs7581198288:19,796,986C/T—uncertain significance
rs7800306928:19,796,987C/A—uncertain significance
rs7514945978:19,796,988G/T—uncertain significance
rs15901342978:19,796,992G/A—pathogenic
rs7813671988:19,796,994C/A—uncertain significance
rs7481321018:19,796,996C/G—likely benign
rs12592999058:19,797,003C/T—likely benign
rs7497390328:19,797,007C/A—uncertain significance
rs7714099528:19,797,008C/A—likely benign
rs5724772248:19,797,010C/T—likely benign
rs12157982538:19,797,011C/T—likely benign
rs7724181318:19,797,014C/T—likely benign
rs5399970188:19,797,019G/A—uncertain significance
rs25400922938:19,797,020A/G—likely benign
rs11758321338:19,797,023G/C—likely benign
rs17526932038:19,797,030G/T—uncertain significance
rs7648711418:19,797,032C/A—conflicting classifications of pathogenicity
rs13877186518:19,797,035C/G—likely benign
rs7661342158:19,797,040G/C—pathogenic
rs13175313678:19,797,042A/C—uncertain significance
rs20698117178:19,797,048T/C—likely benign
rs7512762628:19,797,049G/A—likely benign
rs25400923548:19,797,051G/A—likely benign
rs13052563588:19,797,053G/C—likely benign
rs7528273248:19,797,055A/G—likely benign
rs1413904638:19,797,079G/A—likely benign
rs69973308:19,800,529G/Cintron variant—
rs5332511948:19,804,049G/A—benign
rs736674698:19,805,495T/G—benign
rs1922709108:19,805,674C/T—likely benign
rs25400997398:19,805,676A/T—likely benign
rs7586827878:19,805,681T/C—likely benign
rs15901392678:19,805,682C/T—likely benign
rs3730407048:19,805,684T/G—likely benign
rs14271589378:19,805,687C/A—likely benign
rs20698999228:19,805,688C/T—uncertain significance
rs21288369808:19,805,690G/A—likely pathogenic
rs7806664888:19,805,691A/G—likely benign
rs20699001758:19,805,699G/C—uncertain significance
rs25400997718:19,805,704T/C—likely benign
rs1454052738:19,805,707C/A—likely benign
rs18011778:19,805,708G/Amissense variantrisk factor
rs21288369898:19,805,710C/T—likely benign
rs3740675078:19,805,713C/T—likely benign
rs5570152338:19,805,714G/A—conflicting classifications of pathogenicity
rs12782042408:19,805,725T/C—likely benign
rs11896834118:19,805,728C/T—likely benign
rs14230276818:19,805,730T/A—uncertain significance
rs20699007078:19,805,734G/T—uncertain significance
rs1439441268:19,805,736C/A—uncertain significance
rs25400998208:19,805,737C/A—likely benign
rs25400998278:19,805,743A/G—likely benign
rs10154922798:19,805,744G/T—uncertain significance
rs1482015698:19,805,751C/G—uncertain significance
rs1411361138:19,805,755G/A—likely benign
rs21288370098:19,805,764C/T—likely benign
rs25400998538:19,805,769T/G—uncertain significance
rs3725548728:19,805,776C/T—likely benign
rs8875951318:19,805,780G/T—uncertain significance
rs1147267978:19,805,791C/T—conflicting classifications of pathogenicity
rs1141017728:19,805,792G/A—uncertain significance
rs21288370178:19,805,794G/A—likely benign
rs1509091718:19,805,805A/G—uncertain significance
rs20699016878:19,805,808T/C—uncertain significance
rs115420658:19,805,815C/G—likely benign
rs25400999348:19,805,818C/T—likely benign
rs21288370348:19,805,827C/G—likely benign
rs25400999448:19,805,836G/C—likely benign
rs11925972098:19,805,841A/G—uncertain significance
rs21288370358:19,805,842T/C—likely benign
rs7620074068:19,805,844G/A—conflicting classifications of pathogenicity
rs3722672108:19,805,850C/T—uncertain significance
rs5448724458:19,805,851G/A—uncertain significance
rs15635696348:19,805,852G/A—pathogenic
rs10353180408:19,805,860G/A—likely benign
rs7519299288:19,805,868G/A—likely benign
rs20699023058:19,805,870G/A—likely benign
rs590548598:19,805,929A/G—benign
rs70165298:19,806,631T/Cintron variant—
rs1155890618:19,809,024C/G—likely benign

Showing 100 of 638 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.