1 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 23 Oct 2026

      PatientID: None

      KindredID: 4479

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Familial VHL stated; although only 1 family member recorded.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0005584 (Pheochromocytoma, retinal capillary hemangioma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8956040

      SupplementalData: N/A

      Variant: p.E70* (c.208G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.E70* (c.421G>T)

      ClinVarID: 428806 https://www.ncbi.nlm.nih.gov/clinvar/variation/428806/

      CAID: CA16602179 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.208G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E70* (c.208G>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline CivicName:E70*(c.208G>T) cDNAposition:208 ProteinPosition:70 AminoAcidChange:GLUtoTER CAID:CA16602179 ClinVarID:428806 MutationType:stop_gained Familial RefSeq:AF010238.1 InheritancePattern:AutosomalDominant ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109