HEXA

hexosaminidase subunit alpha

Summary

This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

Known Variants874 total

rsidPosition (GRCh37)AllelesClassClinVar
rs718019115:72,635,344C/Tdownstream gene variant—
rs3594955515:72,635,788C/T—likely benign
rs1162950815:72,635,829A/C—benign
rs7607537415:72,635,843C/T—uncertain significance
rs308765215:72,635,903C/T—benign
rs11262630915:72,635,982G/A—uncertain significance
rs18839976915:72,636,063G/C—uncertain significance
rs88605146115:72,636,218A/G—uncertain significance
rs55891829215:72,636,342C/T—uncertain significance
rs53279727915:72,636,406G/A—uncertain significance
rs146781195015:72,636,421G/A—likely benign
rs214031850115:72,636,430A/G—likely benign
rs254250556715:72,636,434T/C—uncertain significance
rs138900914015:72,636,436C/T—likely benign
rs143246238715:72,636,437T/G—uncertain significance
rs254250561515:72,636,445G/A—likely benign
rs254250562115:72,636,449C/T—likely pathogenic
rs132703156715:72,636,451T/C—likely benign
rs208858069715:72,636,452A/T—uncertain significance
rs74960906315:72,636,454A/G—likely benign
rs159579549015:72,636,459G/C—uncertain significance
rs132200388315:72,636,460G/A—likely benign
rs36939895215:72,636,463T/C—likely benign
rs254250571015:72,636,471G/A—pathogenic
rs254250571415:72,636,472G/C—likely benign
rs76124990515:72,636,475A/G—likely benign
rs144874487015:72,636,476C/A—uncertain significance
rs74543249915:72,636,479C/T—uncertain significance
rs78620458515:72,636,480G/Astop gainedpathogenic
rs254250578415:72,636,485C/T—likely benign
rs19991430815:72,636,487A/G—conflicting classifications of pathogenicity
rs208858161215:72,636,488G/A—likely benign
rs77528192715:72,636,491G/C—likely benign
rs141208141215:72,636,499G/A—likely benign
rs1046805115:72,637,599T/C—benign
rs291221815:72,637,708T/C—benign
rs254250936915:72,637,767A/C—likely benign
rs254250939815:72,637,773C/T—likely benign
rs140686426115:72,637,774A/G—likely benign
rs37044992115:72,637,775C/T—likely benign
rs155547226215:72,637,785A/G—likely pathogenic
rs130920490815:72,637,786C/A—pathogenic
rs214031954215:72,637,789C/T—likely benign
rs254250947615:72,637,792C/T—likely benign
rs477750215:72,637,795T/C—benign
rs12190795515:72,637,802C/Tmissense variantpathogenic
rs2894207115:72,637,803G/Amissense variantpathogenic
rs124845826615:72,637,804G/C—uncertain significance
rs155547227015:72,637,811G/C—likely pathogenic
rs12190795615:72,637,817C/Tmissense variantpathogenic
rs12190796615:72,637,818G/Amissense variantpathogenic
rs254250963515:72,637,822A/C—pathogenic
rs14750221915:72,637,823T/C—uncertain significance
rs117913699615:72,637,825G/C—uncertain significance
rs37378110815:72,637,826G/C—uncertain significance
rs208860001715:72,637,832G/C—uncertain significance
rs254250970915:72,637,835A/G—uncertain significance
rs77431373915:72,637,836G/A—likely benign
rs118508009715:72,637,837G/C—uncertain significance
rs76173658315:72,637,838T/C—uncertain significance
rs76755411315:72,637,839C/G—uncertain significance
rs254250974615:72,637,840A/C—likely benign
rs254250976215:72,637,843T/C—likely benign
rs208860030915:72,637,844G/A—uncertain significance
rs208860036115:72,637,846C/G—uncertain significance
rs140871626415:72,637,856C/T—uncertain significance
rs214031961915:72,637,858C/T—pathogenic
rs105751946815:72,637,859C/Tstop gainedpathogenic
rs12190796815:72,637,860A/Gmissense variantuncertain significance
rs254250984815:72,637,861C/T—likely benign
rs12190795215:72,637,869C/Astop gainedpathogenic
rs14009100615:72,637,870G/A—likely benign
rs37692931515:72,637,874A/G—uncertain significance
rs37063833815:72,637,875C/T—uncertain significance
rs214031966015:72,637,876A/G—likely benign
rs14501203815:72,637,878C/G—uncertain significance
rs134381287915:72,637,879C/G—likely benign
rs105751946715:72,637,881C/Tmissense variantpathogenic
rs214031967415:72,637,882T/C—likely benign
rs214031967915:72,637,888G/A—likely benign
rs75882920615:72,637,889G/C—uncertain significance
rs12190798115:72,637,891C/Gmissense variantpathogenic
rs155547229615:72,637,892C/A—pathogenic
rs254251003715:72,637,893T/C—pathogenic
rs38790630915:72,637,896C/CTATCframeshift variantpathogenic
rs254251004715:72,637,897G/A—likely benign
rs120498400215:72,637,898G/A—likely benign
rs214031969815:72,637,899A/G—likely benign
rs214031970415:72,637,900A/T—likely benign
rs74752887715:72,637,901A/G—likely benign
rs136617359115:72,637,904G/A—likely benign
rs94221268915:72,637,905G/A—likely benign
rs254251011415:72,637,909T/C—likely benign
rs228825915:72,637,960C/T—benign
rs803774915:72,638,128T/C—benign
rs5773398315:72,638,391C/T—benign
rs75957407615:72,638,557C/G—likely benign
rs75297504315:72,638,559C/T—likely benign
rs126070193215:72,638,560C/G—likely benign
rs18576454815:72,638,561C/G—conflicting classifications of pathogenicity

Showing 100 of 874 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.