X > Gly+ 14AA(T852G)
Tissue specimens of apparent sporadic pheochromocytoma were retrieved from the archives of the Department of Pathology of the Erasmus MC (Rotterdam), the Radboud University Nijmegen Medical Center, and the University Hospital Zurich (Switzerland). Mutation analysis was performed for 136 VHL cases and six germline VHL mutations were found. Mutation analysis was performed using SSCP analysis and BigDye® Terminator V3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA). 136 VHL cases and six germline VHL mutations were found. A c.639T>G mutation (stated as c.852T>G in the paper which used the Latif sequence as reference) was found in one 49Y female patient (patient ID 25B) with benign adrenal pheochromocytoma. No other phenotypes, patient demographics, or family history was described.