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    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
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    1. ClingenBaseline 22 Oct 2026
      18M/34ASB/L PCCVHL3c.482G>Ap.(Arg161Gln)Substitution (missense)Disease causing

      PatientID: 18

      KindredID: 18

      Case: M, 34Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo:  None - Apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R161Q(c.482G>A) cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes Mutation:Germline Ethnicity:SouthAsian PreviousTesting:NF1/RET/SDHB/SDHD NoFamilyInfo inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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