{{Rsnum
|rsid=80338736
|Chromosome=19
|Orientation=minus
|geno1=(-;-)
|geno2=(-;CCGGGACTGGGCC)
|geno3=(CCGGGACTGGGCC;CCGGGACTGGGCC)
|Gene=GAMT
|position=1399810
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=601240
|rsnum=80338736
|variant=0002
}}{{ClinVar
|rsid=80338736
|Reversed=1
|FwdREF=CCC
|FwdALT=CGGGACTGGGCCC
|REF=G
|ALT=GGGCCCAGTCCCGG
|RSPOS=1399809
|CHROM=19
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110200
|GENEINFO=GAMT:2593
|GENE_NAME=GAMT
|GENE_ID=2593
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.1399810_1399822dupGGCCCAGTCCCGG
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK3794; 601240.0002
|CLNSIG=5
|CLNCUI=C0574080; C0574080
|CLNDBN=Deficiency of guanidinoacetate methyltransferase
|Disease=Deficiency of guanidinoacetate methyltransferase
|CLNACC=RCV000008800.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK3794:C0574080:612736:382:124239003
}}{{PMID|8651275|OA=1
}} Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.