{{Rsnum
|rsid=80338709
|Chromosome=16
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PMM2
|position=8847806
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PMM2
}}{{omim
|id=601785
|rsnum=80338709
|variant=0012
}}{{ClinVar
|rsid=80338709
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=8941663
|CHROM=16
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=PMM2:5373
|GENE_NAME=PMM2
|GENE_ID=5373
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.8941663G>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1110; 601785.0012
|CLNSIG=5
|CLNCUI=C0349653; C0349653
|CLNDBN=Carbohydrate-deficient glycoprotein syndrome type I
|Disease=Carbohydrate-deficient glycoprotein syndrome type I
|CLNACC=RCV000008156.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1110:NBK1332:C0349653:212065:79318:277893002
}}{{PMID Auto
|PMID=10922383
|Title=Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.
|OA=1
}}

{{PMID Auto
|PMID=11156536
|Title=High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
|OA=1
}}