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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
      462A→C Tv Exon 2 154 CCA P P154P

      GroupID: 35

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: other manifestations are not clearly stated.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P154P (c.462A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA16621934 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.462A%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: synonymous_variant

      CivicName: P154= (c.462A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo Ethnicity:French DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AssumedRefSeq:NM_000551.3 Mutation:Germline CivicName:P154=(c.462A>C) cDNAposition:462 ProteinPosition:154 AminoAcidChange:PROtoPRO MutationType:synonymous_variant CAID:CA16621934 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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