1 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe
    1
    1. ClingenBaseline 25 Oct 2026

      GroupID/ KindredID: VHL 13

      Case: Sex unknown, Age unknown, German

      DiseaseAssertion: assumed VHL

      FamilyInfo: One patient with the given mutation is stated to belong to VHL family 13

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0002666; HP:0000107; HP:0005584 (retinal capillary hemangioma, hemangioblastoma, pheochromocytoma, renal cyst, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161G (c.481C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R161G (c.694C>G)

      ClinVarID: 618484 https://www.ncbi.nlm.nih.gov/clinvar/variation/618484

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R161G (c.481C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL Ethnicity:German Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma NoFamilyInfo InheritancePattern:AutosomalDominant ClinVarID:Yes ClinVarID:618484 ProteinPosition:161 CivicName:R161G(c.481C>G) cDNAposition:481 MutationType:missense_variant;transversion AminoAcidChange:ARGtoGLY inferred_gene_hgnc:1748 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s004390050206