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  2. nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    Genetic Analyses of Apparently Sporadic Pheochromocytomas
    1
    1. ClingenBaseline 12 Nov 2026
      48 F 39 B A VHL G644A G144Q

      PatientID: 48

      KindredID: 48

      Case: F, 39Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Patients with apparently sporadic pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a benign adrenal pheochromocytoma at age 39.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G144E(c.431G>A) *Protein change is recorded improperly by the author

      LegacyVariant: p.G144E(c.644G>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351754206 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.431G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName:G144E(c.431G>A)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:39 NonFamilial cDNAposition:431 ProteinPosition:144 CAID:CA351754206 ClinVarID:N/A AssumedRefSeq:AF010238.1 CivicName:G144E(c.431G>A) AminoAcidChange:GLYtoGLU inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/full/10.1196/annals.1353.014