{{Rsnum
|rsid=387906824
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=PMM2
|position=8806377
|Gene_s=PMM2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Chromosome=16
}}{{ClinVar
|ALT=T
|CHROM=16
|CLNACC=RCV000023149.1
|CLNALLE=1
|CLNDBN=Carbohydrate-deficient glycoprotein syndrome type I
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1110:NBK1332:C0349653:212065:79318:277893002
|CLNHGVS=NC_000016.9:g.8900234A>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601785.0023
|Disease=Carbohydrate-deficient glycoprotein syndrome type I
|FwdALT=T
|FwdREF=A
|REF=A
|RSPOS=8900234
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906824
|GENEINFO=PMM2:5373
|GENE_ID=5373
|GENE_NAME=PMM2
}}