{{Rsnum
|rsid=386833420
|Chromosome=4
|Orientation=minus
|geno1=(-;-)
|geno2=(-;AG)
|geno3=(AG;AG)
|Gene=AGA
|position=177440353
|Gene_s=AGA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=4
|CLNACC=RCV000049348.1
|CLNALLE=1
|CLNDBN=Aspartylglycosaminuria
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0268225:208400:93
|CLNHGVS=NC_000004.11:g.178361507_178361508delCT
|CLNSIG=4
|Disease=Aspartylglycosaminuria
|FwdREF=AG
|REF=GCT
|RSPOS=178361506
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386833420
|GENEINFO=AGA:175
|GENE_ID=175
|GENE_NAME=AGA
}}{{PMID Auto
|PMID=7627186
|Title=Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
}}