SGSH

N-sulfoglucosamine sulfohydrolase

Summary

This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]

Known Variants772 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18855064317:78,175,027G/Ccoding sequence variant—
rs7285365517:78,177,341C/Tcoding sequence variant—
rs1165207517:78,178,893C/Tmissense variantpathogenic
rs56561254717:78,182,258G/A——
rs88605355117:78,183,153C/T—uncertain significance
rs88605355217:78,183,173T/C—uncertain significance
rs88605355317:78,183,243G/A—uncertain significance
rs92917942617:78,183,257C/T—uncertain significance
rs88605355417:78,183,273G/A—uncertain significance
rs90325134417:78,183,360T/C—uncertain significance
rs11172682317:78,183,361C/T—uncertain significance
rs104683217:78,183,396A/G—benign
rs70967717:78,183,403G/C—benign
rs70967817:78,183,411C/T—benign
rs102274129817:78,183,417T/C—uncertain significance
rs201245217:78,183,418T/C—benign
rs136005701317:78,183,539C/A—uncertain significance
rs56402330217:78,183,594G/A—uncertain significance
rs101143593017:78,183,745G/A—uncertain significance
rs37716557217:78,183,750G/A—uncertain significance
rs88605355517:78,183,752G/A—uncertain significance
rs13871704517:78,183,780C/T—uncertain significance
rs53213051717:78,183,792G/A—uncertain significance
rs88605355617:78,183,799C/T—uncertain significance
rs14181072717:78,183,836T/C—benign
rs37271251717:78,183,873C/T—uncertain significance
rs88605355717:78,183,882G/A—uncertain significance
rs207114817:78,183,936G/A—benign
rs56665446617:78,183,942C/T—uncertain significance
rs11346261917:78,184,019A/G—uncertain significance
rs13906664917:78,184,050T/A—likely benign
rs54612831017:78,184,125C/T—uncertain significance
rs204158506617:78,184,156T/A—uncertain significance
rs11162899217:78,184,158T/C—uncertain significance
rs57687979617:78,184,182G/A—uncertain significance
rs251085434417:78,184,257C/T—likely benign
rs77192374217:78,184,260A/G—likely benign
rs77985603617:78,184,261T/C—uncertain significance
rs251085449017:78,184,269G/A—likely benign
rs128102255417:78,184,270G/A—uncertain significance
rs123223184817:78,184,274G/A—uncertain significance
rs159873666617:78,184,276C/G—uncertain significance
rs56244533017:78,184,279T/C—uncertain significance
rs76922867017:78,184,284A/G—likely benign
rs145854892017:78,184,286A/G—uncertain significance
rs143648387217:78,184,287G/C—likely benign
rs52974776617:78,184,288A/C—uncertain significance
rs204159349917:78,184,290C/T—likely benign
rs214468776517:78,184,293C/T—likely benign
rs14564517917:78,184,298C/T—uncertain significance
rs145844293517:78,184,302G/A—likely benign
rs76458595717:78,184,304C/T—uncertain significance
rs75756398117:78,184,305G/A—conflicting classifications of pathogenicity
rs77908360517:78,184,307C/T—uncertain significance
rs76336002117:78,184,308G/A—likely benign
rs19050564817:78,184,310C/T—conflicting classifications of pathogenicity
rs77983631217:78,184,311G/A—likely benign
rs159873688417:78,184,312G/A—likely pathogenic
rs11367969617:78,184,314G/A—conflicting classifications of pathogenicity
rs37629681817:78,184,315G/A—uncertain significance
rs78096969317:78,184,316C/A—uncertain significance
rs74774256617:78,184,317G/A—likely benign
rs76945988817:78,184,320C/T—likely benign
rs147455614517:78,184,322C/A—uncertain significance
rs76234526017:78,184,326G/A—likely benign
rs251085542117:78,184,329G/T—likely pathogenic
rs106479510917:78,184,331C/Tmissense variantpathogenic
rs13946063917:78,184,332G/A—benign
rs77585515417:78,184,335G/C—likely benign
rs214468910117:78,184,336G/C—uncertain significance
rs251085553017:78,184,338C/T—likely benign
rs145321723017:78,184,341C/G—uncertain significance
rs251085557317:78,184,342C/T—pathogenic
rs155562007217:78,184,344C/G—uncertain significance
rs214468925617:78,184,348C/T—pathogenic
rs97794893517:78,184,350C/T—likely benign
rs36895236917:78,184,356C/T—likely benign
rs204159912517:78,184,357A/G—uncertain significance
rs76449130817:78,184,365C/G—likely benign
rs129424090517:78,184,366C/T—conflicting classifications of pathogenicity
rs75427340017:78,184,367G/A—uncertain significance
rs214468964417:78,184,374C/T—likely benign
rs214468972017:78,184,377C/T—likely benign
rs129894421917:78,184,380A/T—likely benign
rs156791445917:78,184,385G/A—pathogenic
rs251085607517:78,184,386A/G—likely benign
rs86766090617:78,184,389A/G—likely benign
rs750303417:78,184,393C/Tmissense variantbenign
rs120471432317:78,184,394G/A—uncertain significance
rs75070913817:78,184,395C/T—likely benign
rs76627259017:78,184,396G/A—uncertain significance
rs14549007217:78,184,399T/A—uncertain significance
rs55204939917:78,184,400C/T—uncertain significance
rs75198005617:78,184,401G/A—likely benign
rs78091828317:78,184,402G/C—uncertain significance
rs204160183517:78,184,404G/A—likely benign
rs75595123517:78,184,415G/A—pathogenic
rs251085650717:78,184,416G/A—likely benign
rs98062054017:78,184,417G/A—uncertain significance
rs251085654217:78,184,419C/T—likely benign

Showing 100 of 772 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.