1 Matching Annotations
  1. Last 7 days
    1. VHL germline variants

      Pathogenic variants from 10,389 individuals across 33 cancer types were examined from The Cancer Genome Atlas (TCGA) cohort. 12 of these individuals had a germline mutation in the VHL gene. The E134*(c.400G>T) nonsense VHL mutation was found in a white 29Y0M female diagnosed with clear cell renal cell carcinoma. No family information was provided.