{{Rsnum
|rsid=397514033
|Chromosome=21
|Orientation=plus
|geno1=(-;-)
|geno2=(-;T)
|geno3=(T;T)
|Gene=PCNT
|position=46388845
|Gene_s=PCNT
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=CT
|CHROM=21
|CLNACC=RCV000004970.3
|CLNALLE=1
|CLNDBN=Microcephalic osteodysplastic primordial dwarfism type 2
|CLNDSDB=MedGen:OMIM:OMIM
|CLNDSDBID=C1859451:210720:607561
|CLNHGVS=NC_000021.8:g.47808760dupT
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605925.0003
|Disease=Microcephalic osteodysplastic primordial dwarfism type 2
|FwdALT=T
|GENEINFO=PCNT:5116
|GENE_ID=5116
|GENE_NAME=PCNT
|REF=C
|RSPOS=47808759
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=136
|rsid=397514033
}}