In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This missense mutation was found in 4 VHL type 1 family members (family ID 3315), using PCR and SSCP sequencing. The mutation of c.332G>A was referred to in the paper by c.545G>A due to a difference in transcript sequence. 1 of 4 individuals were identified with retinal hemangioblastomas, 2 with CNS hemangioblastomas, and 2 with renal cell carcinoma. This was possibly previously published in PMID 9829911

In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This missense mutation was found in 4 VHL type 1 family members (family ID 3315), using PCR and SSCP sequencing. The mutation of c.332G>A was referred to in the paper by c.545G>A due to a difference in transcript sequence. 1 of 4 individuals were identified with retinal hemangioblastomas, 2 with CNS hemangioblastomas, and 2 with renal cell carcinoma. This was possibly previously published in PMID 9829911