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  2. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 22 Oct 2026
      395A→C Tv Exon 2 132 CAA Q Q132P

      GroupID: 31

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: N/A

      CaseHPOFreeText: other manifestations are not clearly stated.

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.Q132P (c.395A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 496063 https://www.ncbi.nlm.nih.gov/clinvar/variation/496063/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: Q132P (c.395A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:French Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:395 CivicName:Q132P(c.395A>C) AminoAcidChange:GLNtoPRO ClinVarID:496063 ClinVarID:Yes MutationType:missense_variant;transversion ProteinPosition:132 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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