1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Patient-specific factors influence somatic variation patterns in von Hippel–Lindau disease renal tumours
    1
    1. ClingenBaseline 05 Nov 2026
      F60yellowFemale60Trp117Cys3rd R (prior L radical)Never24.76No

      PatientID: None

      KindredID: 4

      Case: F, 60Y0M, Ethnicity Unknown

      DiseaseAssertion: Clear Cell Renal Cell Carcinoma

      FamilyInfo: N/A

      CohortInfo: The National Cancer Institute has a frozen tumour bank of ccRCC tumours that have been removed from VHL patients. We selected six patients, three males and three females, with at least five tumours from a single surgery from one kidney.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: The patient presented with ccRCC at age 60.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W117C(c.351G>X)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: This protein change corresponds to both c.351G>C or c.351G>T.

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:W117C(c.351G>X)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:clearcellrenalcellcarcinoma AgeOfPresentation:clearcellrenalcellcarcinoma:60 cDNAposition:351 ProteinPosition:117 AminoAcidChange:TRPtoCYS ClinVarID:N/A CAID:N/A UnregisteredVariant NoFamilyInfo CivicName:W117C(c.351G>X) ProblemVariant:Unresolved ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4869254/