1 Matching Annotations
  1. Last 7 days
  2. www.nature.com www.nature.com
    Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective study
    1
    1. ClingenBaseline 13 Nov 2026

      PatientID: 82

      KindredID: 82

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Bilateral pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Patient information pulled from Supplemental Table 1b.

      Variant: p.A122V (c.365C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1027087, https://www.ncbi.nlm.nih.gov/clinvar/variation/1027087/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Membrane CA9 immunostaining was observed (supplemental table 1).

      MutationType: missense_variant;transition

      CivicName: A122V (c.365C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:365 ProteinPosition:122 AminoAcidChange:ALAtoVAL ClinVarID:1027087 ClinVarID:Yes MutationType:missense_variant;transition CivicName:A122V(c.365C>T) NoFamilyInfo SupplementalData DiseaseEntity:AssumedVHL inferred_gene_hgnc:11998 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/s41379-019-0343-4