GALNS

galactosamine (N-acetyl)-6-sulfatase

Summary

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

Known Variants972 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76353912616:88,880,191A/G—uncertain significance
rs118694730616:88,880,208A/C—uncertain significance
rs75570684716:88,880,237C/A—uncertain significance
rs55151127816:88,880,274T/C—uncertain significance
rs11444745516:88,880,301G/A—likely benign
rs18117468316:88,880,324C/T—uncertain significance
rs8012589016:88,880,327G/T—uncertain significance
rs57383635016:88,880,344A/C—uncertain significance
rs190937776716:88,880,460A/C—uncertain significance
rs77688017916:88,880,560A/G—uncertain significance
rs190938959116:88,880,577A/G—uncertain significance
rs88605245116:88,880,584A/G—uncertain significance
rs91573373116:88,880,586A/C—uncertain significance
rs18937520816:88,880,611G/A—conflicting classifications of pathogenicity
rs88605245216:88,880,640C/A—uncertain significance
rs18746928316:88,880,650G/A—uncertain significance
rs103206837816:88,880,661G/C—uncertain significance
rs53928598816:88,880,702G/A—uncertain significance
rs115709947016:88,880,703A/G—uncertain significance
rs55735650316:88,880,707G/T—uncertain significance
rs88605245316:88,880,724C/G—uncertain significance
rs53644802216:88,880,752A/T—uncertain significance
rs89782661316:88,880,761G/A—uncertain significance
rs93363078616:88,880,777A/G—uncertain significance
rs37715177116:88,880,818T/G—uncertain significance
rs88605245416:88,880,827G/C—uncertain significance
rs7782692016:88,880,844G/C—conflicting classifications of pathogenicity
rs214296661516:88,880,848T/C—conflicting classifications of pathogenicity
rs134814923616:88,880,849A/C—pathogenic
rs118533144316:88,880,850G/A—likely benign
rs190941912216:88,880,853G/T—likely benign
rs214296668616:88,880,856C/T—uncertain significance
rs37289338316:88,880,857C/Tstop gainedpathogenic
rs39812343416:88,880,858A/G—conflicting classifications of pathogenicity
rs190942026616:88,880,859G/C—likely benign
rs159751535416:88,880,861G/A—uncertain significance
rs14818212516:88,880,865C/T—likely benign
rs20115394516:88,880,876T/C—uncertain significance
rs76277470716:88,880,880T/C—likely benign
rs53077354016:88,880,885G/A—uncertain significance
rs7467515216:88,880,889T/C—likely benign
rs7741925216:88,880,890G/A—uncertain significance
rs214296700016:88,880,893A/G—uncertain significance
rs97037345016:88,880,894G/A—likely benign
rs39812343316:88,880,896C/A—uncertain significance
rs156750907016:88,880,897A/G—conflicting classifications of pathogenicity
rs76153902516:88,880,903C/T—uncertain significance
rs76701136516:88,880,906A/G—likely benign
rs134468065216:88,880,907C/T—likely benign
rs94849058916:88,880,914C/Tmissense variantpathogenic
rs130349202116:88,880,918C/A—conflicting classifications of pathogenicity
rs74997903216:88,880,919C/T—likely benign
rs54283508516:88,880,920G/A—conflicting classifications of pathogenicity
rs159751555516:88,880,923G/A—conflicting classifications of pathogenicity
rs145425326816:88,880,924G/A—uncertain significance
rs135511346616:88,880,928C/T—pathogenic
rs250828148116:88,880,929C/G—likely pathogenic
rs88603937716:88,880,931G/Cmissense variantpathogenic
rs140488850416:88,880,933T/A—conflicting classifications of pathogenicity
rs122384823916:88,880,934C/G—likely pathogenic
rs214296734016:88,880,935T/C—likely pathogenic
rs75325344116:88,880,942T/C—likely benign
rs124782958416:88,880,945A/G—likely benign
rs250828183916:88,880,946A/C—likely benign
rs146199203316:88,880,948T/C—conflicting classifications of pathogenicity
rs37486162416:88,880,950G/A—likely benign
rs143203646516:88,880,952G/A—likely benign
rs1107671616:88,880,965C/G—benign
rs7951230316:88,882,564G/Aregulatory region variant—
rs1293546916:88,883,047T/C——
rs14538469416:88,883,816G/A—benign
rs11549202016:88,884,134G/A—benign
rs230327316:88,884,226G/A—likely benign
rs230327216:88,884,231T/C—likely benign
rs11661163416:88,884,294A/C—benign
rs7774238316:88,884,299T/C—likely benign
rs7689577216:88,884,306G/A—likely benign
rs7751348316:88,884,378C/T—likely benign
rs250836353516:88,884,406G/A—likely benign
rs214298203216:88,884,410C/T—uncertain significance
rs37740767816:88,884,411T/C—uncertain significance
rs250836367316:88,884,413A/G—pathogenic
rs214298205416:88,884,414C/T—uncertain significance
rs214298206216:88,884,416A/G—uncertain significance
rs140117548616:88,884,417T/C—conflicting classifications of pathogenicity
rs37105694816:88,884,421C/T—likely benign
rs14117109116:88,884,422G/A—uncertain significance
rs76030045416:88,884,423C/T—pathogenic
rs140867396516:88,884,424C/T—pathogenic
rs75334464916:88,884,426A/G—uncertain significance
rs250836435016:88,884,430G/A—likely benign
rs117388390416:88,884,433C/T—likely benign
rs7812713416:88,884,435C/T—benign
rs127346388916:88,884,436G/T—uncertain significance
rs11820444016:88,884,437T/Amissense variantuncertain significance
rs250836466416:88,884,438T/A—conflicting classifications of pathogenicity
rs250836471816:88,884,439G/A—likely benign
rs148215572916:88,884,446G/A—conflicting classifications of pathogenicity
rs120448578916:88,884,447G/A—conflicting classifications of pathogenicity
rs214298231316:88,884,450G/A—likely pathogenic

Showing 100 of 972 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.