1 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours
    1
    1. ClingenBaseline 28 Oct 2026
      DR552F7.3PCOcular papilloedemaMother: PCMaternal SDR: RCC, SLE/RAVHL syndromeY++ VHL Missensec.191G > Cp.Arg64ProPNDYND

      PatientID: 552

      KindredID: 1

      Case: F, 7Y4M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient’s mother had pheochromocytoma, and the patient’s maternal second-degree relatives had renal cell carcinoma and systemic lupus erythematosus/rheumatoid arthritis.

      CasePresentingHPOs: HP:0002666; HP:0001085 (Pheochromocytoma, papilledema)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R64P (c.191G>C)

      ClinVarID: 2226, https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R64P(c.191G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:7 Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:2226 ClinVarID:Yes cDNAposition:191 ProteinPosition:64 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion CivicName:R64P(c.191G>C) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6237849/