1 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 29 Oct 2026
      PMID: 7977367

      KindredID: 19

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This is a family belonging to prefigure No. 19. They are described as ‘VHL-affected’.

      GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

      GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65* (c.189_192del)

      LegacyVariant: p.136fs* (c.402_405del4)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223205 https://www.ncbi.nlm.nih.gov/clinvar/variation/223205/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: minus_1_frameshift; stop_gained

      CivicName: S65* (c.189_192del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma ProteinPosition:65 AminoAcidChange:SERtoTER CivicName:S65*(c.189_192del) MutationType:stop_gained ClinVarID:223205 ClinVarID:Yes Familial MutationType:deletion cDNAposition:189 cDNAposition:192 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/7977367/