{{Rsnum
|rsid=386833426
|Chromosome=4
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=AGA
|position=177438865
|Gene_s=AGA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=4
|CLNACC=RCV000049354.1
|CLNALLE=1
|CLNDBN=Aspartylglycosaminuria
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0268225:208400:93
|CLNHGVS=NC_000004.11:g.178360019T>C
|CLNSIG=4
|Disease=Aspartylglycosaminuria
|FwdALT=G
|FwdREF=A
|REF=T
|RSPOS=178360019
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833426
|GENEINFO=AGA:175
|GENE_ID=175
|GENE_NAME=AGA
}}{{PMID Auto
|PMID=1756604
|Title=Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.
}}

{{PMID Auto
|PMID=11309371
|Title=Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
}}