CTC1 Chromosome 17
CST telomere replication complex component 1
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What This Gene Does
This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
CST complex
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000178971
Associated Conditions (10)
Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
CTC1-related disorder
Inborn genetic diseases
Gastric cancer
Retinal disorder
Acute myeloid leukemia
Malignant tumor of esophagus
Coats plus syndrome
Colon adenocarcinoma
Key Variants
RS1164794062
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS138725914
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, CTC1-related disorder
Health Risk
RS139078502
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
Health Risk
RS147714487
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Inborn genetic diseases
Health Risk
RS1597378045
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Inborn genetic diseases, Cerebroretinal microangiopathy with calcifications and cysts 1
Health Risk
RS1986947659
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS1987317835
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS1987321255
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Inborn genetic diseases, Dyskeratosis congenita
Health Risk
RS199473678
Conflicting classifications of pathogenicity
Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
Health Risk
RS199698527
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Inborn genetic diseases
Health Risk
RS199966003
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Inborn genetic diseases, Dyskeratosis congenita
Health Risk
RS200137992
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
Health Risk
All Variants (176)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS367943020 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS372031509 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS374877315 | Health Risk | Pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS397514660 | Health Risk | Pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1 |
| RS562356966 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS62637613 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS761076987 | Health Risk | Pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1 |
| RS767991627 | Health Risk | Pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS778525768 | Health Risk | Pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1 |
| RS1237260493 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS1567599993 | Health Risk | Pathogenic/Likely pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1 |
| RS199473677 | Health Risk | Pathogenic/Likely pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Coats plus syndrome |
| RS199473682 | Health Risk | Pathogenic/Likely pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1 |
| RS200609323 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS202138550 | Health Risk | Pathogenic/Likely pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Colon adenocarcinoma |
| RS202213253 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Inborn genetic diseases, Dyskeratosis congenita |
| RS387907080 | Health Risk | Pathogenic/Likely pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1 |
| RS745467709 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS748852501 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS760884555 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS761869951 | Health Risk | Pathogenic/Likely pathogenic | Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1 |
| RS761922947 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, CTC1-related disorder |
| RS764019241 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS766214390 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS773120259 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |
| RS952398755 | Health Risk | Pathogenic/Likely pathogenic | Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita |