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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
    1
    1. ClingenBaseline 25 Oct 2026
      586A>T

      PatientID: 3

      KindredID: 3

      Case: F, 22Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Family history present.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Multiple involvements of central nervous system HB.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.K196* (c.586A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVar: 196284 https://www.ncbi.nlm.nih.gov/clinvar/variation/196284/

      CAID: CA020507 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.586A%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: K196* (c.586A>T)

      MultipleGeneVariants: N/A

      Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:NM_000551.2 cDNAposition:586 ProteinPosition:196 ClinVarID:196284 CAID:CA020507 MutationType:stop_gained Familial AminoAcidChange:LYStoTER CivicName:K196*(c.586A>T) InheritancePattern:AutosomalDominant ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2650969/