DKC1 Chromosome X
Dyskerin pseudouridine synthase 1
Upload your DNA to see your personal genotypes for variants in DKC1.
What This Gene Does
This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"H/ACA ribonucleoprotein complex|Pseudouridine synthases|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes|Telomerase holoenzyme subunits"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000130826
Associated Conditions (15)
Dyskeratosis congenita
X-linked
Congenital cerebellar hypoplasia
Ovarian serous cystadenocarcinoma
Hoyeraal-Hreidarsson syndrome
DKC1-related disorder
History of neurodevelopmental disorder
Cataracts
hearing impairment
nephrotic syndrome
and enterocolitis 1
Thyroid cancer
nonmedullary
1
Pulmonary fibrosis
Key Variants
RS1057520719
Conflicting classifications of pathogenicity
Dyskeratosis congenita, X-linked, Congenital cerebellar hypoplasia
Health Risk
RS121912303
Conflicting classifications of pathogenicity
Dyskeratosis congenita, X-linked, Ovarian serous cystadenocarcinoma
Health Risk
RS121912305
Conflicting classifications of pathogenicity
Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita, X-linked
Health Risk
RS142474971
Conflicting classifications of pathogenicity
Dyskeratosis congenita, DKC1-related disorder, Dyskeratosis congenita
Health Risk
RS150319104
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, Dyskeratosis congenita, DKC1-related disorder
Health Risk
RS1557265675
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Cataracts, hearing impairment
Health Risk
RS1603429509
Conflicting classifications of pathogenicity
Dyskeratosis congenita, X-linked, Dyskeratosis congenita
Health Risk
RS199422241
Conflicting classifications of pathogenicity
Dyskeratosis congenita, X-linked, DKC1-related disorder
Health Risk
RS199422254
Conflicting classifications of pathogenicity
Dyskeratosis congenita, X-linked, Dyskeratosis congenita
Health Risk
RS2071739379
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS2148509772
Conflicting classifications of pathogenicity
Dyskeratosis congenita, X-linked, Cataracts
Health Risk
RS369066088
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057520719 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, X-linked, Congenital cerebellar hypoplasia |
| RS121912303 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, X-linked, Ovarian serous cystadenocarcinoma |
| RS121912305 | Health Risk | Conflicting classifications of pathogenicity | Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita, X-linked |
| RS142474971 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, DKC1-related disorder, Dyskeratosis congenita |
| RS150319104 | Health Risk | Conflicting classifications of pathogenicity | History of neurodevelopmental disorder, Dyskeratosis congenita, DKC1-related disorder |
| RS1557265675 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Cataracts, hearing impairment |
| RS1603429509 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS199422241 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, X-linked, DKC1-related disorder |
| RS199422254 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS2071739379 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS2148509772 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, X-linked, Cataracts |
| RS369066088 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS374771308 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS376632263 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS782010351 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS782159247 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS782343800 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS782576893 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, X-linked, DKC1-related disorder |
| RS782598355 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, DKC1-related disorder, Dyskeratosis congenita |
| RS782622660 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS782697778 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Thyroid cancer, nonmedullary |
| RS949327136 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS1114167422 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS121912289 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS121912290 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS137854489 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS1557265435 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS1569558474 | Health Risk | Likely pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS199422245 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS2071733846 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS2071871731 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS2523679280 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS2523680452 | Health Risk | Likely pathogenic | — |
| RS2523695424 | Health Risk | Likely pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS200438009 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2071814101 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS121912288 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS121912292 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS121912293 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS121912294 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS121912295 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS121912304 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS137854491 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS1557264102 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS1569558616 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS1603429348 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, DKC1-related disorder |
| RS199422252 | Health Risk | Pathogenic | Dyskeratosis congenita, X-linked, Dyskeratosis congenita |
| RS2523673228 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS2523680394 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS2523685088 | Health Risk | Pathogenic | Cataracts, hearing impairment, nephrotic syndrome |