LIPA

lipase A, lysosomal acid type

Summary

This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

Known Variants525 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88604746410:90,973,380A/C—uncertain significance
rs7893129010:90,973,398G/T—likely benign
rs124582323510:90,973,438G/C—uncertain significance
rs1350010:90,973,492G/A—likely benign
rs88604746510:90,973,494A/G—uncertain significance
rs56149046510:90,973,540G/A—uncertain significance
rs88604746610:90,973,594A/C—uncertain significance
rs75591407310:90,973,636G/A—uncertain significance
rs77482063710:90,973,646C/T—uncertain significance
rs117903768610:90,973,664G/A—uncertain significance
rs113170610:90,973,676A/T3 prime UTR variantbenign
rs14144568610:90,973,709G/C—conflicting classifications of pathogenicity
rs88604746710:90,973,727T/G—uncertain significance
rs18713838410:90,973,743C/T—uncertain significance
rs11607452310:90,973,744G/A—uncertain significance
rs88604746810:90,973,781G/A—uncertain significance
rs4128411610:90,973,841G/C—uncertain significance
rs11532017410:90,973,942G/A—uncertain significance
rs88604746910:90,973,967C/G—uncertain significance
rs966420110:90,973,977G/A—likely benign
rs76917966610:90,974,012A/T—uncertain significance
rs94266652410:90,974,028T/G—uncertain significance
rs18774782610:90,974,041C/A—uncertain significance
rs14277752510:90,974,051A/G—uncertain significance
rs11633258110:90,974,077G/A—uncertain significance
rs100345476910:90,974,091T/C—uncertain significance
rs11570152510:90,974,094T/C—uncertain significance
rs100650411410:90,974,127G/A—uncertain significance
rs76328898410:90,974,200G/T—uncertain significance
rs184259309710:90,974,202T/C—uncertain significance
rs11796787710:90,974,255A/G—uncertain significance
rs133896240610:90,974,401A/G—uncertain significance
rs76757851610:90,974,434G/A—uncertain significance
rs141525575710:90,974,591A/G—likely benign
rs213341124010:90,974,592T/C—uncertain significance
rs75000166110:90,974,597C/T—likely benign
rs184260014110:90,974,600C/T—uncertain significance
rs184260028010:90,974,606A/G—likely benign
rs184260041510:90,974,611T/A—uncertain significance
rs249555444110:90,974,613A/C—uncertain significance
rs144994100210:90,974,614T/C—uncertain significance
rs249555447710:90,974,615T/C—likely benign
rs184260068910:90,974,618A/G—conflicting classifications of pathogenicity
rs76606256210:90,974,622T/C—likely pathogenic
rs52966867410:90,974,627C/G—conflicting classifications of pathogenicity
rs105635694510:90,974,630C/G—uncertain significance
rs249555460110:90,974,633A/G—likely benign
rs184260140910:90,974,640T/A—likely pathogenic
rs133445640510:90,974,643A/G—uncertain significance
rs184260153610:90,974,645G/A—likely benign
rs249555472810:90,974,650A/T—uncertain significance
rs77801327910:90,974,652A/G—uncertain significance
rs20042011710:90,974,657G/A—conflicting classifications of pathogenicity
rs249555481310:90,974,660A/C—likely benign
rs249555485910:90,974,663A/C—likely pathogenic
rs36766448610:90,974,665G/A—conflicting classifications of pathogenicity
rs74599746210:90,974,666C/T—likely benign
rs11682721110:90,974,672T/C—conflicting classifications of pathogenicity
rs138127029010:90,974,675C/T—likely benign
rs76398978010:90,974,676G/A—uncertain significance
rs103797203310:90,974,677G/C—uncertain significance
rs74721446310:90,974,679A/G—conflicting classifications of pathogenicity
rs76843625510:90,974,680T/C—uncertain significance
rs14539695710:90,974,682C/T—uncertain significance
rs249555508110:90,974,700T/C—uncertain significance
rs75355381310:90,974,702G/A—likely benign
rs77629485610:90,974,706A/T—likely pathogenic
rs53850711710:90,974,708C/T—conflicting classifications of pathogenicity
rs143191485210:90,974,713T/G—uncertain significance
rs158954818010:90,974,714C/T—likely benign
rs77268486910:90,974,715A/G—likely pathogenic
rs13793221210:90,974,717T/C—likely benign
rs213341170410:90,974,718A/C—pathogenic
rs128106968110:90,974,719A/G—likely benign
rs158954820510:90,974,726G/A—likely benign
rs75116737610:90,974,728C/T—likely benign
rs156474850410:90,974,729G/A—conflicting classifications of pathogenicity
rs249555535210:90,974,731C/T—uncertain significance
rs75459170810:90,974,732G/A—likely benign
rs124904612310:90,974,735G/A—likely benign
rs124351586010:90,974,737C/G—uncertain significance
rs14945969910:90,974,739T/C—uncertain significance
rs75781957710:90,974,742G/A—uncertain significance
rs145518914610:90,974,746G/T—uncertain significance
rs213341182110:90,974,750G/A—likely benign
rs144662629310:90,974,752C/T—pathogenic
rs77960144110:90,974,753G/C—conflicting classifications of pathogenicity
rs75850061110:90,974,754T/C—uncertain significance
rs184260481310:90,974,755G/A—uncertain significance
rs78000769210:90,974,757C/T—uncertain significance
rs55041512610:90,974,759C/T—conflicting classifications of pathogenicity
rs76882698810:90,974,760C/A—likely pathogenic
rs77647252610:90,974,761C/T—pathogenic
rs74798439610:90,974,762G/A—likely benign
rs184260543010:90,974,765C/A—uncertain significance
rs14379310610:90,974,776T/C—conflicting classifications of pathogenicity
rs37689562010:90,974,777C/T—likely benign
rs77040771910:90,974,778G/A—uncertain significance
rs156474860610:90,974,780C/T—conflicting classifications of pathogenicity
rs134066723910:90,974,781A/G—uncertain significance

Showing 100 of 525 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.