{{Rsnum
|rsid = 28936072
|Gene = DKC1
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=X
|position=154765472
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=DKC1
}}{{omim
|desc=HOYERAAL-HREIDARSSON SYNDROME
|id=300126
|rsnum=28936072
|variant=0012
}}
{{ neighbor
| rsid = 28937308
| distance = 5576
}}

{{ClinVar
|rsid=28936072
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=153993747
|CHROM=X
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050368000000000402110100
|GENEINFO=DKC1:1736
|GENE_NAME=DKC1
|GENE_ID=1736
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.153993747T>C
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=NBK22301; 300126.0012; VAR_015674
|CLNSIG=5
|CLNCUI=C1846142
|CLNDBN=Hoyeraal Hreidarsson syndrome; Dyskeratosis congenita X-linked
|Disease=Hoyeraal Hreidarsson syndrome; Dyskeratosis congenita X-linked
|CLNACC=RCV000012351.2; RCV000055631.24
|Tags=PM;PMC;S3D;SLO;HD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK22301:C1846142:300240; NBK22301:C1148551:305000
}}

{{PMID|12437656}} A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}