{{Rsnum
|rsid=121912304
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=DKC1
|position=154765505
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DKC1
}}{{omim
|id=300126
|rsnum=121912304
|variant=0010
}}{{ClinVar
|rsid=121912304
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=153993780
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=DKC1:1736
|GENE_NAME=DKC1
|GENE_ID=1736
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.153993780C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=NBK22301; 300126.0010; VAR_015675
|CLNSIG=5
|CLNCUI=C1846142; C1148551
|CLNDBN=Dyskeratosis congenita X-linked
|Disease=Dyskeratosis congenita X-linked
|CLNACC=RCV000012349.2
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK22301:C1148551:305000
}}{{PMID|10583221}} Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.