{{Rsnum
|rsid=121908256
|Chromosome=17
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=CBX2
|position=79784771
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CBX2
}}{{omim
|id=602770
|rsnum=121908256
|variant=0002
}}{{ClinVar
|rsid=121908256
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=77758570
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=CBX2:84733
|GENE_NAME=CBX2
|GENE_ID=84733
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.77758570G>C
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=602770.0002; VAR_063752
|CLNSIG=5
|CLNCUI=C2751317
|CLNDBN=46,XY sex reversal, type 5
|Disease=46
|CLNACC=RCV000007229.2
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2751317:613080:242
}}{{PMID|19361780|OA=1
}} Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.