{{Rsnum
|rsid=387906928
|Chromosome=21
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=PCNT
|position=46385979
|Gene_s=PCNT
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=21
|CLNACC=RCV000023500.2
|CLNALLE=1
|CLNDBN=Microcephalic osteodysplastic primordial dwarfism type 2
|CLNDSDB=MedGen:OMIM:OMIM
|CLNDSDBID=C1859451:210720:607561
|CLNHGVS=NC_000021.8:g.47805894G>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605925.0011
|Disease=Microcephalic osteodysplastic primordial dwarfism type 2
|FwdALT=T
|FwdREF=G
|REF=G
|RSPOS=47805894
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906928
|GENEINFO=PCNT:5116
|GENE_ID=5116
|GENE_NAME=PCNT
}}