1 Matching Annotations
  1. Last 7 days
  2. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 23 Oct 2026
      c.263G>A p.Trp88Stop

      PatientID: None (proband 11)

      KindredID: 11

      Case: M, 38Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s mother (last known age 36Y) had a CNS hemangioblastoma diagnosed at 36Y.

      CasePresentingHPOs: HP:0005584; HP:0001737 (renal cell carcinoma, pancreatic cysts)

      CaseHPOFreeText: RCC and multiple pancreatic cysts or tumors diagnosed at age 34 and 38Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 22357542

      SupplementalData: N/A

      Variant: p.W88* (c.263G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.263G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:renalcellcarcinoma:34 AgeOfPresentation:pancreaticcysts:38 ClinVarID:182978 ClinVarID:Yes PreviouslyPublished ExperimentalAssay Familial AssumedRefSeq:NM_000551.3 Mutation:Germline MutationType:stop_gained AminoAcidChange:TRPtoTER ProteinPosition:88 CivicName:W88*(c.263G>A) cDNAposition:263 inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    cancerres.aacrjournals.org/content/74/14/3802