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| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 5/09/2006 |
| Symbol | RCC1 |
| Location | 3p25.3 |
| Name | hereditary renal cell carcinoma |
| Other name(s) |
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| Corresponding gene | VHL |
| Main clinical features | non papillary subtype, predisposition to renal carcinoma |
| Genetic determination | autosomal dominant |
| Related entries | CRCC, RCC2, RCC3, PRCC |
| Function/system disorder | kidney and urinary tract |
| Type | malignancy |
| Gene product |
| Name | VHL protein |
| Remark(s) | germinal or somatic mutations of VHL, leading to truncated proteins germline mutations in 39% of cases, deletions, insertions, splice-site, missense and nonsense mutations, resulting in truncated protein |