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  2. nyaspubs.onlinelibrary.wiley.com nyaspubs.onlinelibrary.wiley.com
    Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients
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    1. ClingenBaseline 07 Nov 2026
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      PatientID: 8

      KindredID: 8

      Case: Sex Unknown, 31Y0M, Italian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Present - potential pathogenic relevance due to a family history, although no further information present

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: adrenal bilateral pheochromocytoma with an age of diagnosis of 31Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93C (c.277G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223175 https://www.ncbi.nlm.nih.gov/clinvar/variation/223175/

      CAID: N/A

      gnomAD: 0.000004476 https://gnomad.broadinstitute.org/variant/3-10183808-G-T

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G93C (c.277G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Italian DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:31 Familial ProteinPosition:93 cDNAposition:277 CivicName:G93C(c.277G>T) MutationType:missense_variant;transversion AminoAcidChange:GLYtoCYS Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nyaspubs.onlinelibrary.wiley.com/doi/abs/10.1196/annals.1353.016