A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting andd SSCP analysis. This missense mutation (c.264G>C) was recorded in the paper as c.477G>C due to a difference in transcript sequence. It was found in one patient with hemangioblastomas of the central nervous system. No other phenotype described.