GAA

alpha glucosidase

Summary

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants1,905 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37490938617:78,073,499C/Astop gainedpathogenic
rs230485017:78,075,228T/C—benign
rs55790890617:78,075,247G/C—likely benign
rs54425965317:78,075,361C/T—likely benign
rs103397371617:78,075,405C/T—likely benign
rs57432692017:78,075,410C/T—conflicting classifications of pathogenicity
rs214380634617:78,075,411G/C—likely benign
rs101674118817:78,075,438G/A—likely benign
rs88605354117:78,075,486C/T—uncertain significance
rs19015263817:78,075,606C/T—conflicting classifications of pathogenicity
rs96042719117:78,075,618C/T—likely benign
rs159856455517:78,075,619G/A—likely benign
rs36773184117:78,075,660A/C—uncertain significance
rs54738511017:78,075,678G/A—likely benign
rs90798102017:78,075,685A/G—likely benign
rs115726613117:78,075,706C/T—likely benign
rs488996117:78,075,908G/C—benign
rs14460499917:78,078,173C/T—likely benign
rs36837725617:78,078,270G/A—likely benign
rs77136757917:78,078,336C/G—uncertain significance
rs36893324117:78,078,337G/A—likely benign
rs38683423617:78,078,341T/Gdownstream gene variantpathogenic
rs77568200117:78,078,349C/T—uncertain significance
rs76092577717:78,078,350G/A—likely benign
rs105594580617:78,078,351C/A—pathogenic
rs144523253017:78,078,352A/G—pathogenic
rs155559846017:78,078,353G/C—likely pathogenic
rs37693986117:78,078,368T/A—likely benign
rs78006427217:78,078,377T/C—likely benign
rs56051122817:78,078,384C/T—likely benign
rs78620446717:78,078,386A/Gmissense variantpathogenic
rs203902404717:78,078,387T/C—pathogenic
rs118779694517:78,078,388G/A—pathogenic
rs156782517517:78,078,389G/T—likely pathogenic
rs124599245517:78,078,390G/C—uncertain significance
rs103760395717:78,078,393T/C—uncertain significance
rs37214707717:78,078,396G/A—uncertain significance
rs142411661317:78,078,401C/T—uncertain significance
rs77140918017:78,078,402C/T—uncertain significance
rs77470363717:78,078,403G/C—conflicting classifications of pathogenicity
rs214382383717:78,078,406C/T—likely benign
rs251034409317:78,078,409C/T—likely benign
rs88604267117:78,078,410T/C—uncertain significance
rs159856887917:78,078,411C/G—uncertain significance
rs214382391417:78,078,414A/T—uncertain significance
rs203902531117:78,078,415C/T—likely benign
rs77239481517:78,078,416C/T—uncertain significance
rs13881284617:78,078,417G/A—conflicting classifications of pathogenicity
rs20054880617:78,078,421C/T—conflicting classifications of pathogenicity
rs122109681917:78,078,426C/T—uncertain significance
rs14137745317:78,078,427C/G—likely benign
rs77215748717:78,078,428G/A—uncertain significance
rs20216880417:78,078,433C/T—likely benign
rs75142583117:78,078,434G/A—uncertain significance
rs148779873817:78,078,437C/T—uncertain significance
rs88605354217:78,078,439C/T—uncertain significance
rs20034319817:78,078,440G/A—uncertain significance
rs124585849517:78,078,443T/A—uncertain significance
rs75244930617:78,078,444C/G—uncertain significance
rs228953717:78,078,452A/G—conflicting classifications of pathogenicity
rs203902753817:78,078,453C/T—uncertain significance
rs74635133617:78,078,454C/T—likely benign
rs13971676317:78,078,455G/A—uncertain significance
rs74738072817:78,078,457T/C—likely benign
rs76886736317:78,078,459C/T—uncertain significance
rs136615915017:78,078,460A/G—likely benign
rs14976165017:78,078,461C/T—uncertain significance
rs138509826917:78,078,462T/G—uncertain significance
rs214382466817:78,078,463C/T—likely benign
rs53860520817:78,078,464C/T—likely benign
rs127570235117:78,078,466G/A—likely benign
rs88604259817:78,078,468G/T—uncertain significance
rs76973390117:78,078,469G/A—likely benign
rs203902857217:78,078,472C/T—likely benign
rs129527884917:78,078,476C/T—likely benign
rs159856916417:78,078,481C/G—likely benign
rs77347961617:78,078,483A/G—uncertain significance
rs14473630917:78,078,484T/C—likely benign
rs251034463817:78,078,490C/T—likely benign
rs136975826117:78,078,493G/C—likely benign
rs36977599417:78,078,494C/G—uncertain significance
rs75923653617:78,078,500C/A—uncertain significance
rs156782545717:78,078,501C/T—uncertain significance
rs144969554117:78,078,502C/T—likely benign
rs76740939517:78,078,503C/Tstop gainedpathogenic
rs37447619617:78,078,504G/A—conflicting classifications of pathogenicity
rs214382504717:78,078,511G/C—likely benign
rs55060950217:78,078,516G/T—uncertain significance
rs214382510617:78,078,517C/T—likely benign
rs132270929617:78,078,518T/G—uncertain significance
rs117939502417:78,078,519C/T—uncertain significance
rs214382518717:78,078,520C/T—likely benign
rs75337590017:78,078,523C/G—conflicting classifications of pathogenicity
rs105557523217:78,078,529C/T—likely benign
rs91562562317:78,078,532G/A—likely benign
rs155559860917:78,078,533G/T—pathogenic
rs203903043617:78,078,536G/A—uncertain significance
rs214382540317:78,078,541T/A—likely benign
rs78055443017:78,078,543A/G—uncertain significance
rs214382546417:78,078,544C/A—uncertain significance

Showing 100 of 1,905 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.