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  2. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Mutation of the Von Hippel-Lindau tumour suppressor gene in capillary haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 22 Oct 2026

      PatientID: 9

      KindredID: 9

      Case: M, 18Y0M, Ethnicity Unknown

      DiseaseAssertion: Cerebellar Hemangioblastoma

      FamilyInfo: N/A

      CohortInfo: The cohort included a series of 20 capillary haemangioblastomas of the central nervous system for mutations of the VHL gene.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183Cfs*19(c.548delC)

      LegacyVariant: p.S183Cfs*19(c.761delC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA658795184 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.548delC

      gnomAD: N/A

      VariantEvidence: Refer to Table 1 for abnormal SSCP or heteroduplex patterns.

      MutationType: minus_1_frameshift_variant

      CivicName: S183fs (c.548delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:18 NoFamilyInfo AssumedRefSeq:AF010238.1 cDNAposition:548 ProteinPosition:183 AminoAcidChange:SERtoCYS CAID:CA658795184 MutationType:minus_1_frameshift_variant CivicName:S183fs(c.548delC) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/8758206/