1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional and Oncologic Outcomes of Partial Adrenalectomy for Pheochromocytoma in VHL Patients After at Least 5 Years of Follow Up
    1
    1. ClingenBaseline 05 Nov 2026
      FSdelA at 6961 (5.6)1 (3.8)

      GroupID: 12

      Case: Age, Sex, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 1 individual belonging to 1 family was mentioned with this VHL mutation. No other family info was provided.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Other manifestations aside from pheochromocytoma are possible; but not specified.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162Afs*8 (c.483delA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.C162Afs*8 (c.696delA)

      ClinVarID: 928822 https://www.ncbi.nlm.nih.gov/clinvar/variation/928822/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: C162Afs*8 (c.483delA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:C162Afs*8(c.483delA) cDNAposition:483 ProteinPosition:162 AminoAcidChange:CYStoALA Familial MutationType:minus_1_frameshift_variant ClinVarID:928822 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3164541/