CDT1 Chromosome 16
Chromatin licensing and DNA replication factor 1
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What This Gene Does
The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]
Associated Conditions (11)
Meier-Gorlin syndrome 4
Inborn genetic diseases
CDT1-related disorder
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Cervical cancer
Sarcoma
Ovarian serous cystadenocarcinoma
Gastric cancer
Meier-Gorlin syndrome
Key Variants
RS141663679
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 4, Inborn genetic diseases, CDT1-related disorder
Health Risk
RS143149360
Conflicting classifications of pathogenicity
CDT1-related disorder, Inborn genetic diseases, CDT1-related disorder
Health Risk
RS144721725
Conflicting classifications of pathogenicity
Health Risk
RS144843732
Conflicting classifications of pathogenicity
Health Risk
RS145552478
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 4, CDT1-related disorder, Melanoma
Health Risk
RS148337159
Conflicting classifications of pathogenicity
CDT1-related disorder, CDT1-related disorder
Health Risk
RS189449467
Conflicting classifications of pathogenicity
Health Risk
RS200652608
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
Health Risk
RS200672589
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
Health Risk
RS3218727
Conflicting classifications of pathogenicity
CDT1-related disorder, Inborn genetic diseases, CDT1-related disorder
Health Risk
RS556429460
Conflicting classifications of pathogenicity
Health Risk
RS559019677
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141663679 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 4, Inborn genetic diseases, CDT1-related disorder |
| RS143149360 | Health Risk | Conflicting classifications of pathogenicity | CDT1-related disorder, Inborn genetic diseases, CDT1-related disorder |
| RS144721725 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144843732 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145552478 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 4, CDT1-related disorder, Melanoma |
| RS148337159 | Health Risk | Conflicting classifications of pathogenicity | CDT1-related disorder, CDT1-related disorder |
| RS189449467 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200652608 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS200672589 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS3218727 | Health Risk | Conflicting classifications of pathogenicity | CDT1-related disorder, Inborn genetic diseases, CDT1-related disorder |
| RS556429460 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS559019677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS577211739 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748552177 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754064981 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770232566 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Meier-Gorlin syndrome 4, Inborn genetic diseases |
| RS1409329871 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS2508205765 | Health Risk | Likely pathogenic | — |
| RS776483689 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS1403548687 | Health Risk | Pathogenic | — |
| RS147914553 | Health Risk | Pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS1567502140 | Health Risk | Pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS2142945856 | Health Risk | Pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS2508191996 | Health Risk | Pathogenic | — |
| RS2508193346 | Health Risk | Pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS2508213890 | Health Risk | Pathogenic | — |
| RS387906918 | Health Risk | Pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS749671711 | Health Risk | Pathogenic | — |
| RS755972697 | Health Risk | Pathogenic | — |
| RS779871947 | Health Risk | Pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |
| RS387906917 | Health Risk | Pathogenic/Likely pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome, Meier-Gorlin syndrome 4 |
| RS587780305 | Health Risk | Pathogenic/Likely pathogenic | Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4 |