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    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 24 Oct 2026
      5 F/11 PCC VHL 3 c.482G>A (p.Arg161Gln) Post-NGS Targeted NGS P Bilateral adrenal 2.0 Benign Yes Symptomatic Noradrenergic

      PatientID: 5

      KindredID: 5

      Case: F, 11Y0M, Korean

      DiseaseAssertion: Adrenal Pheochromocytoma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma (see table 3)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:11 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD CivicName:R161Q(c.482G>A) cDNAPosition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 NoFamilyInfo Ethnicity:Korean ClinVarID:Yes inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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