{{Rsnum
|rsid=80338701
|Chromosome=16
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PMM2
|position=8811088
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PMM2
}}{{omim
|id=601785
|rsnum=80338701
|variant=0006
}}{{ClinVar
|rsid=80338701
|Reversed=0
|FwdREF=C
|FwdALT=A
|REF=C
|ALT=A
|RSPOS=8904945
|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.8904945C>A
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=10965; NBK1110; 601785.0006
|CLNSIG=5
|CLNCUI=C0349653; C0349653
|CLNDBN=Carbohydrate-deficient glycoprotein syndrome type I; not provided
|Disease=Carbohydrate-deficient glycoprotein syndrome type I; not provided
|CLNACC=RCV000008150.1; RCV000078589.1
|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=9497260
|Title=Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
|OA=1
}}

{{PMID Auto
|PMID=9781039
|Title=Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
}}