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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 04 Nov 2026
      223_224insT

      PatientID: 4

      KindredID: 4

      Case: F, 24Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Family history involved.

      CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F75Yfs*57 (c.222_223insT)

      CaseProblemVariantFreeText: paper states 2 mismatched protein changes vs cDNA changes: c.223_224insT matches with p.F76Lfs*56. To get the given protein sequence they use: p.I75fs, the mutation should be c.222_223insT.

      LegacyVariant: N/A

      ClinVar: N/A

      CAID: CA2499306953 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499306953

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: F76Lfs*56 (c.224dup)

      MultipleGeneVariants: N/A

      Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:NM_000551.2 cDNAposition:224 ProteinPosition:76 AminoAcidChange:PHEtoLEU MutationType:plus_1_frameshift_variant Familial CivicName:F76Lfs*56(c.224dup) InheritancePattern:AutosomalDominant ClinVarID:Yes CAID:CA2499306953 ProteinPosition:75 cDNAposition:222 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2650969/