2 Matching Annotations
  1. Last 7 days
  2. nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    Genetic Analyses of Apparently Sporadic Pheochromocytomas
    2
    1. ClingenBaseline 21 Oct 2026
      33M F NK M A VHL 854insC X > Cys+ 128AA

      PatientID: 33M

      KindredID: 33M

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Patients with apparently sporadic pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a malignant adrenal pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214C(c.641_642insC)

      LegacyVariant: p.X > Cys+ 128AA (c.854insC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913189243 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.641_642insC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: *214C (c.641_642insC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 MutationType:plus_1_frameshift_variant DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma cDNAposition:641 ProteinPosition:214 ClinVarID:N/A CAID:CA913189243 CivicName:*214C(c.641_642insC) AminoAcidChange:*toCYS inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      33M F NK M A VHL 854insC X > Cys+ 128AA

      PatientID: 33M

      KindredID: 33M

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Patients with apparently sporadic pheochromocytomas.

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: The patient had a malignant adrenal pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214C(c.641_642insC)

      LegacyVariant: p.X > Cys+ 128AA (c.854insC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913189243 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.641_642insC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: *214C (c.641_642insC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 MutationType:plus_1_frameshift_variant DiseaseEntity:VHL NonFamilial DiseaseEntity:adrenalpheochromocytoma cDNAposition:641 ProteinPosition:214 ClinVarID:N/A CAID:CA913189243 CivicName:*214C(c.641_642insC) AminoAcidChange:*toCYS inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nyaspubs-onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/full/10.1196/annals.1353.014