{{Rsnum
|rsid=80338737
|Chromosome=15
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GATM
|position=45369364
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GATM
}}{{omim
|id=602360
|rsnum=80338737
|variant=0001
}}{{ClinVar
|rsid=80338737
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=45661562
|CHROM=15
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=GATM:2628
|GENE_NAME=GATM
|GENE_ID=2628
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.45661562C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK3794; 602360.0001
|CLNSIG=5
|CLNCUI=C2675179; C2675179
|CLNDBN=Arginine:glycine amidinotransferase deficiency
|Disease=Arginine:glycine amidinotransferase deficiency
|CLNACC=RCV000007725.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK3794:C2675179:612718:35704
}}{{PMID Auto
|PMID=11555793
|Title=Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
|OA=1
}}

{{PMID Auto
|PMID=12468279
|Title=Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.
}}