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    Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 11 Nov 2026
      Bilateral PCCVHLBloodSangerc.355T>Cp.F119LKnown Pathogenic [58]

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No family information reported.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient had bilateral pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F119L (c.355T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496059, https://www.ncbi.nlm.nih.gov/clinvar/variation/496059/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transition

      CivicName: F119L (c.355T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pheochromocytoma CivicName:F119L(c.355T>C) cDNAPosition:355 ProteinPosition:119 AminoAcidChange:PHEtoLEU NoFamilyInfo ClinVarID:Yes ClinVarID:496059 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    oncotarget.com/article/27194/text/