RB1 Chromosome 13
RB transcriptional corepressor 1
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What This Gene Does
The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Receptor ligands
Locus Type
gene with protein product
Location
13q14.2
Ensembl
ENSG00000139687
Associated Conditions (35)
Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
See cases
Neoplasm
Hereditary retinoblastoma
Melanoma
Ovarian cancer
B Lymphoblastic Leukemia/Lymphoma
Not Otherwise Specified
Ovarian neoplasm
Colon adenocarcinoma
Thymoma
Lung cancer
Thyroid cancer
nonmedullary
1
+15 more conditions
Key Variants
RS1007286459
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, RB1-related disorder
Health Risk
RS1014776340
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Malignant tumor of urinary bladder
Health Risk
RS1032510984
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1034616967
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma
Health Risk
RS1057505320
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma
Health Risk
RS1060503085
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma
Health Risk
RS1060503086
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma
Health Risk
RS1131690848
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma
Health Risk
RS1131690877
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Retinoblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1131690891
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Retinoblastoma, Hereditary cancer-predisposing syndrome
Health Risk
RS1131690901
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Retinoblastoma, Retinoblastoma
Health Risk
RS1167280920
Conflicting classifications of pathogenicity
Retinoblastoma, Hereditary cancer-predisposing syndrome, Malignant tumor of urinary bladder
Health Risk
All Variants (903)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2138112755 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138112865 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138112893 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma, Retinoblastoma |
| RS2138116265 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138116341 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138116708 | Health Risk | Pathogenic | Retinoblastoma, Sarcoma, Retinoblastoma |
| RS2138120917 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138121023 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138121175 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma, Retinoblastoma |
| RS2138121441 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Retinoblastoma, Hereditary cancer-predisposing syndrome |
| RS2138121452 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138123098 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138130852 | Health Risk | Pathogenic | Retinoblastoma, Neoplasm, Hereditary retinoblastoma |
| RS2138131106 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138131143 | Health Risk | Pathogenic | Squamous cell carcinoma, Squamous cell carcinoma |
| RS2138131253 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma, Retinoblastoma |
| RS2138131328 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138136154 | Health Risk | Pathogenic | Retinoblastoma, Malignant tumor of urinary bladder, Retinoblastoma |
| RS2138136261 | Health Risk | Pathogenic | Retinoblastoma, Neoplasm, Retinoblastoma |
| RS2138136325 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138136448 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138136497 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138136807 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138136840 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138140730 | Health Risk | Pathogenic | Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma |
| RS2138140795 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138140900 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138140923 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138142183 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138142263 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Retinoblastoma, Hereditary cancer-predisposing syndrome |
| RS2138142421 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138143170 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138144870 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138144919 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138144988 | Health Risk | Pathogenic | Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma |
| RS2138145061 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138145156 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma, Retinoblastoma |
| RS2138145163 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma, Retinoblastoma |
| RS2138145303 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138145527 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138145739 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138145859 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma, Retinoblastoma |
| RS2138327123 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138327168 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138327439 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Malignant tumor of urinary bladder, Retinoblastoma |
| RS2138331297 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138331328 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138331459 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |
| RS2138331562 | Health Risk | Pathogenic | Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma |
| RS2138331576 | Health Risk | Pathogenic | Retinoblastoma, Retinoblastoma |