2 Matching Annotations
  1. Last 7 days
  2. nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    Frequent Genetic Changes in Childhood Pheochromocytomas
    2
    1. ClingenBaseline 21 Oct 2026
      F119 18 F left 3 23  2 VHL R64P VHL

      PatientID: F119

      KindredID: 1

      Case: F, 20Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The patient had a pheochromocytoma in the left adrenal gland. It was measured to be 3 cm in size and 23 grams in weight.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R64P(c.191G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2226 https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R64P(c.191G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:18 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:191 ProteinPosition:64 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion CivicName:R64P(c.191G>C) ClinVarID:2226 PreviousTesting:RET/SDHB/SDHD NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      F119 18 F left 3 23  2 VHL R64P VHL

      PatientID: F119

      KindredID: 1

      Case: F, 20Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The patient had a pheochromocytoma in the left adrenal gland. It was measured to be 3 cm in size and 23 grams in weight.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R64P(c.191G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2226 https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R64P(c.191G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:18 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:191 ProteinPosition:64 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion CivicName:R64P(c.191G>C) ClinVarID:2226 PreviousTesting:RET/SDHB/SDHD NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/full/10.1196/annals.1353.017