2 Matching Annotations
  1. Last 7 days
  2. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Hemangioblastomas and Neurogenic Polyglobulia
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 10

      KindredID: 10

      Case: M, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009713 (spinal hemangioblastoma)

      CaseHPOFreeText: The patient had a spinal hemangioblastoma at the C4/C5 boundary. The patient showed an high-normal Hb values (18.6) which fits the polyglobulia disease criteria. After the spinal hemangioblastoma was removed, the Hb normalized.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65W(c.194C>G)

      LegacyVariant: p.S65W(c.407C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/

      CAID: CA020099 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.194C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:S65W(c.194C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:26 DiseaseEntity:VHL Mutation:Germline MutationType:missense_variant;transversion CivicName:S65W(c.194C>G) cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoTRP AssumedRefSeq:AF010238.1 CAID:CA020099 ClinVarID:43597 NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 10

      KindredID: 10

      Case: M, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009713 (spinal hemangioblastoma)

      CaseHPOFreeText: The patient had a spinal hemangioblastoma at the C4/C5 boundary. The patient showed an high-normal Hb values (18.6) which fits the polyglobulia disease criteria. After the spinal hemangioblastoma was removed, the Hb normalized.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65W(c.194C>G)

      LegacyVariant: p.S65W(c.407C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/

      CAID: CA020099 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.194C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:S65W(c.194C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:26 DiseaseEntity:VHL Mutation:Germline MutationType:missense_variant;transversion CivicName:S65W(c.194C>G) cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoTRP AssumedRefSeq:AF010238.1 CAID:CA020099 ClinVarID:43597 NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/72/6/930/2417731