{{Rsnum
|rsid=121912305
|Chromosome=X
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=DKC1
|position=154766313
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DKC1
}}{{omim
|id=300126
|rsnum=121912305
|variant=0011
}}{{ClinVar
|rsid=121912305
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=153994588
|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.153994588A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=NBK22301; 300126.0011; VAR_015676
|CLNSIG=5
|CLNCUI=C1846142
|CLNDBN=Hoyeraal Hreidarsson syndrome; Dyskeratosis congenita X-linked
|Disease=Hoyeraal Hreidarsson syndrome; Dyskeratosis congenita X-linked
|CLNACC=RCV000012350.2; RCV000055630.22
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK22301:C1846142:300240; NBK22301:C1148551:305000
}}{{PMID|10583221}} Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.