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  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 30 Oct 2026
      PMID: 7977367

      PatientID: N/A

      KindredID: A-498 (cell line)

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Renal cell carcinoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: Described as sporadic RCC from cell line A-498

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D143Tfs*29 (c.426_430del)

      LegacyVariant: p.213fs (c.639_642del4)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131758 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131758

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: minus_1_frameshift_variant

      CivicName: D143fs (c.426_430del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant RefSeq:AF010238.1 Mutation:Germline DiseaseEntity:renalcellcarcinoma cDNAposition:426 cDNAposition:430 ProteinPosition:143 MutationType:minus_1_frameshift_variant CivicName:D143fs(c.426_430del) CAID:CA2573131758 ClinVarID:N/A AminoAcidChange:ASPtoTHR NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/