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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the vhl gene in patients presenting with phaeochromocytomas
    2
    2. ClingenBaseline 26 Oct 2026

      PatientID: 19

      KindredID: 19

      Case: F, 72Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: Unilateral benign adrenal pheochromocytoma that was operated on at age 58.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.I147T (c.440T>C)

      LegacyVariant: I147T (c.653T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411964, https://www.ncbi.nlm.nih.gov/clinvar/variation/411964/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as I147T (c.653T>C), legacy nomenclature (AF010238.1), and was mapped to p.Ile147Thr (c.440T>C) in accordance with reference sequence NM_000551.3.

      MutationType: missense_variant;transition

      CivicName: I147T (c.440T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:440 ProteinPosition:147 AminoAcidChange:ILEtoTHR ClinVarID:411964 ClinVarID:Yes MutationType:missense_variant;transition CivicName:I147T(c.440T>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9663592/