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  2. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 02 Nov 2026
      nt 544 A/C* 111 Ser→Arg S111R Missense 1

      PatientID: 17

      GroupID/ KindredID: 17

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111R (c.331A>C)

      LegacyVariant: p.S111R (c.544A>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751320 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.331A%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111R (c.331A>C)

      MultipleGeneVariants: N/A

      Mutation:Germline DiseaseEntity:hemangioblastoma AssumedRefSeq:AF010238.1 CAID:CA351751320 ClinVarID:N/A ProteinPosition:111 AminoAcidChange:SERtoARG cDNAposition:331 CivicName:S111R(c.331A>C) MutationType:missense_variant;transversion NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf