{{Rsnum
|rsid=2228119
|Gene=AGA
|Chromosome=4
|position=177438806
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.06566
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=AGA
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 4.8 | 41.9 | 53.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2228119
|allele=C
|frequency=
|uid=1103654636233
|type=homozygous_SNP
|hugo=AGA
|ensembl gene=ENSG00000038002
|ensembl transcript=ENST00000264595
|sift=TOLERATED
|disease=Defects in AGA are the cause of aspartylglucosaminuria (AGU) (MIM:208400). AGU is an inborn lysosomal storage disease. Clinical features of AGU include mild to severe mental retardation manifesting from the age of 2, coarse facial features and mild connective tissue abnormalities. This recessively inherited disease is overrepresented in the Finnish population.
}}

{{GET Evidence
|gene=AGA
|aa_change=Thr149Ser
|aa_change_short=T149S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228119
|overall_frequency_n=9935
|overall_frequency_d=10758
|overall_frequency=0.923499
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=100
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=2
|n_web_uneval=2
}}

{{ClinVar
|ALT=C
|CAF=0.06566; 0.9343
|CHROM=4
|CLNACC=RCV000077944.1
|CLNALLE=1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNHGVS=NC_000004.11:g.178359960G>C
|CLNSIG=2
|CLNSRC=Emory University
|CLNSRCID=8314
|COMMON=1
|Disease=AllHighlyPenetrant
|FwdALT=G
|FwdREF=C
|GENEINFO=AGA:175
|GENE_ID=175
|GENE_NAME=AGA
|REF=G
|RSPOS=178359960
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|VC=SNV
|VP=0x05036000000015051f100101
|WGT=0
|dbSNPBuildID=98
|rsid=2228119
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}