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  2. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
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    1. ClingenBaseline 30 Oct 2026
      c.482G>A [p.Arg161Gln]

      PatientID: 8

      KindredID: 8

      Case: 10Y0M, Sex unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: isolated bilateral pheochromocytoma first presenting at 10Y

      CaseNotHPOs: HP:0009715; HP:0005584; HP:0010797 (Papillary cystadenoma of the epididymis, renal cell carcinoma, hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHB/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

      DiseaseEntity:VHL AgeOfPresentation:pheochromocytoma:10 DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.2 ProteinPosition:161 CivicName:R161Q(c.482G>A) cDNAposition:482 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes ExperimentalAssay NonFamilial CasePreviousTesting:SDHB/SDHD Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2011/01020/molecular_basis_of_von_hippel_lindau_syndrome_in.16.aspx