{{Rsnum
|rsid=28936415
|Gene=PMM2
|Chromosome=16
|position=8811153
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.007805
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PMM2
}}{{omim
|desc=CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
|id=601785
|rsnum=28936415
|variant=0001
}}
{{ neighbor
| rsid = 28938475
| distance = 38
}}{{ClinVar
|rsid=28936415
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=8905010
|CHROM=16
|GMAF=0.0078
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x05036800000004041e110100
|GENEINFO=PMM2:5373
|GENE_NAME=PMM2
|GENE_ID=5373
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.8905010G>A
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=4979; NBK1110; 601785.0001
|CLNSIG=5
|CLNCUI=C0349653; C0349653
|CLNDBN=Carbohydrate-deficient glycoprotein syndrome type I; not provided
|Disease=Carbohydrate-deficient glycoprotein syndrome type I; not provided
|CLNACC=RCV000008145.1; RCV000078590.1
|Tags=PM;PMC;S3D;SLO;VLD;HD;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9922; 0.007805
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1110:NBK1332:C0349653:212065:79318:277893002
|COMMON=1
}}{{PMID Auto
|PMID=9140401
|Title=Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
}}

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

{{on chip | 23andMe v4}}