IDUA

alpha-L-iduronidase

Summary

This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]

Known Variants1,133 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38067554:979,030C/T——
rs46902204:980,464A/G—benign
rs1898444684:980,601C/G—likely benign
rs1168402054:980,710C/T—likely benign
rs8860597484:980,802C/T—uncertain significance
rs14722464584:980,871C/T—uncertain significance
rs15539147374:980,873A/C—pathogenic
rs7537676754:980,874T/C—pathogenic
rs15539147404:980,875G/A—pathogenic
rs13273664204:980,877G/C—uncertain significance
rs9180330214:980,878T/C—likely benign
rs13334249594:980,880C/A—uncertain significance
rs13809046364:980,881C/T—likely benign
rs10423716694:980,882C/T—likely benign
rs1809849804:980,883T/C—conflicting classifications of pathogenicity
rs7501544304:980,887C/T—likely benign
rs14128210874:980,890C/T—likely benign
rs12407239074:980,893C/A—likely benign
rs14415492494:980,894G/T—uncertain significance
rs112480614:980,896C/A—benign
rs13694144494:980,898C/G—uncertain significance
rs10533277764:980,899G/A—likely benign
rs5497384664:980,902G/A—conflicting classifications of pathogenicity
rs14236098844:980,903C/G—uncertain significance
rs7564554344:980,905G/T—likely benign
rs10096852784:980,907C/T—uncertain significance
rs14039803794:980,908G/C—likely benign
rs13350153354:980,911C/T—likely benign
rs10219700634:980,914G/C—likely benign
rs8860597494:980,916C/T—uncertain significance
rs7781749304:980,917C/G—likely benign
rs5679212624:980,919C/A—pathogenic
rs21530151724:980,920G/A—uncertain significance
rs21530151764:980,924C/T—likely benign
rs7947268784:980,925T/C—likely pathogenic
rs25340035124:980,926G/A—likely benign
rs17137864484:980,927G/C—uncertain significance
rs17137871594:980,931C/T—uncertain significance
rs109027624:980,932A/G—benign
rs7789528834:980,933C/A—uncertain significance
rs21530151914:980,935C/A—likely benign
rs10019725344:980,936C/T—uncertain significance
rs7458797594:980,937C/T—uncertain significance
rs7721955414:980,944C/G—likely benign
rs7757318644:980,945C/T—uncertain significance
rs11733982914:980,946C/T—uncertain significance
rs7468098944:980,948G/A—uncertain significance
rs17137914544:980,950C/G—likely benign
rs7684629164:980,958C/G—uncertain significance
rs5534258874:980,962C/G—uncertain significance
rs12572158984:980,963C/T—likely benign
rs21530152104:980,965G/A—likely benign
rs5667414524:980,966G/T—uncertain significance
rs9919863204:980,968G/T—likely benign
rs107945374:980,971G/T—benign
rs8860597504:980,975G/A—uncertain significance
rs14330908554:980,980G/C—likely benign
rs9506678224:980,984C/T—uncertain significance
rs9850774754:980,985G/T—uncertain significance
rs12194171044:980,995G/A—pathogenic
rs21530152404:980,999C/T—likely benign
rs5588519904:981,002C/A—uncertain significance
rs21530152454:981,004G/A—likely benign
rs21530152474:981,005C/T—uncertain significance
rs14488063694:981,006G/C—uncertain significance
rs25340040424:981,007C/T—likely benign
rs12389770704:981,010C/T—likely benign
rs17137998954:981,013G/A—pathogenic
rs21530152594:981,014A/G—uncertain significance
rs13094728134:981,015G/A—uncertain significance
rs10250577314:981,016G/T—uncertain significance
rs21530152634:981,019C/T—likely benign
rs21530152684:981,022A/G—likely benign
rs7947268774:981,024G/Amissense variantpathogenic
rs14215207184:981,028C/G—uncertain significance
rs17138014324:981,029T/C—uncertain significance
rs25340041484:981,030G/C—uncertain significance
rs12640137074:981,031G/A—pathogenic
rs14884773524:981,037G/T—likely benign
rs12109008404:981,038C/T—likely benign
rs13480880424:981,039T/A—likely benign
rs17138024334:981,041C/T—likely benign
rs9092265054:981,042G/A—likely benign
rs14564687064:981,043C/T—likely benign
rs7559145624:981,046C/T—likely benign
rs25340043284:981,048T/C—likely benign
rs7793319764:981,577C/T—likely benign
rs3757995554:981,578G/A—likely benign
rs12304982704:981,579C/T—likely benign
rs25340076254:981,580C/T—likely benign
rs14241310544:981,588T/C—likely benign
rs8861800694:981,589G/A—likely benign
rs5385339054:981,591C/T—likely benign
rs21530155884:981,595A/C—likely pathogenic
rs15539149354:981,596G/A—likely pathogenic
rs7581908244:981,597C/A—pathogenic
rs21530155954:981,599C/T—uncertain significance
rs13789306364:981,600C/A—likely benign
rs1995549234:981,602C/T—uncertain significance
rs13166703404:981,603G/A—likely benign

Showing 100 of 1,133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.