{{Rsnum
|rsid=121912288
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=DKC1
|position=154773152
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DKC1,SNORA56
}}{{omim
|id=300126
|rsnum=121912288
|variant=0006
}}{{ClinVar
|rsid=121912288
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=154001427
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=SNORA56:677835; DKC1:1736
|GENE_NAME=SNORA56; DKC1
|GENE_ID=677835; 1736
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.154001427C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=NBK22301; 300126.0006; VAR_009264
|CLNSIG=5
|CLNCUI=C1148551; C1846142
|CLNDBN=Dyskeratosis congenita X-linked
|Disease=Dyskeratosis congenita X-linked
|CLNACC=RCV000012343.25
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK22301:C1148551:305000
}}{{PMID Auto
|PMID=10364516
|Title=X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
|OA=1
}}

{{PMID Auto
|PMID=15304085
|Title=Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
}}