{{Rsnum
|rsid=119479061
|Chromosome=21
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=PCNT
|position=46346146
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PCNT
}}{{omim
|id=605925
|rsnum=119479061
|variant=0001
}}{{ClinVar
|rsid=119479061
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=47766060
|CHROM=21
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PCNT:5116
|GENE_NAME=PCNT
|GENE_ID=5116
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.47766060G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605925.0001
|CLNSIG=5
|CLNCUI=C1859451
|CLNDBN=Microcephalic osteodysplastic primordial dwarfism type 2
|Disease=Microcephalic osteodysplastic primordial dwarfism type 2
|CLNACC=RCV000004968.3
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:OMIM
|CLNDSDBID=C1859451:210720:607561
}}