{{Rsnum
|rsid=386833431
|Chromosome=4
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=AGA
|position=177436297
|Gene_s=AGA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=4
|CLNACC=RCV000049359.1
|CLNALLE=1
|CLNDBN=Aspartylglycosaminuria
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0268225:208400:93
|CLNHGVS=NC_000004.11:g.178357451C>T
|CLNSIG=4
|Disease=Aspartylglycosaminuria
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=178357451
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050068000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386833431
|GENEINFO=AGA:175
|GENE_ID=175
|GENE_NAME=AGA
}}{{PMID Auto
|PMID=10399108
|Title=A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.
}}