AGA Chromosome 4

Aspartylglucosaminidase
98 variants 98 Health Risk

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What This Gene Does
This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
Associated Conditions (7)
Aspartylglucosaminuria
Inborn genetic diseases
Intellectual disability
Sarcoma
ASPARTYLGLUCOSAMINURIA
FINNISH TYPE
Autism
Key Variants
RS138699617
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS145465919
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria
Health Risk
RS146381591
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Intellectual disability, Aspartylglucosaminuria
Health Risk
RS34019119
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria
Health Risk
RS369035792
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS371221470
Conflicting classifications of pathogenicity
Inborn genetic diseases, Aspartylglucosaminuria, Inborn genetic diseases
Health Risk
RS386833434
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS74626221
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS752914246
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS766776902
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS778434616
Conflicting classifications of pathogenicity
Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
RS1057516565
Likely pathogenic
Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
Health Risk
All Variants (98)
RSID Category Clinical Significance Conditions
RS138699617 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS145465919 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria
RS146381591 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Intellectual disability, Aspartylglucosaminuria
RS34019119 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Inborn genetic diseases, Aspartylglucosaminuria
RS369035792 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS371221470 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aspartylglucosaminuria, Inborn genetic diseases
RS386833434 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS74626221 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS752914246 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS766776902 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS778434616 Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057516565 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057517062 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057517175 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057517239 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057517329 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1201784742 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS121964905 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
RS121964906 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS121964907 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1253324101 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1483909684 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS149092606 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1553993921 Health Risk Likely pathogenic Aspartylglucosaminuria, Sarcoma, Aspartylglucosaminuria
RS1553994755 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1553994812 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
RS1560952256 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736930552 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1736934298 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111013260 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111022003 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476841436 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476846152 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476846231 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476862496 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476862731 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476867333 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476867533 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476870839 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2476886466 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476887072 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833419 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833420 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833421 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833424 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833427 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833429 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833432 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS386833435 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS937973897 Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria, Aspartylglucosaminuria
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