{{Rsnum
|rsid=104894526
|Chromosome=16
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PMM2
|position=8811674
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PMM2
}}{{omim
|id=601785
|rsnum=104894526
|variant=0004
}}{{ClinVar
|rsid=104894526
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=8905531
|CHROM=16
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PMM2:5373
|GENE_NAME=PMM2
|GENE_ID=5373
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.8905531C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601785.0004
|CLNSIG=5
|CLNCUI=C0349653
|CLNDBN=Carbohydrate-deficient glycoprotein syndrome type I
|Disease=Carbohydrate-deficient glycoprotein syndrome type I
|CLNACC=RCV000008148.2
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1110:NBK1332:C0349653:212065:79318:277893002
}}