2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
    1
    1. ClingenBaseline 11 Nov 2026

      PatientID: 13

      KindredID: 13

      Case: F, 17Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Family history positive for VHL. No further details provided.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0010797 (Retinal capillary hemangioma, Hemangioblastoma)

      CaseHPOFreeText: Multiple CNS and retinal hemangioblastoma. Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1. Phenotypes revised from previous reports (see “PreviouslyPublished” section below for PMID).

      CaseNotHPOs: HP:0002666; HP:0005584; HP:0009711 (Renal cell carcinoma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 19270817

      SupplementalData: N/A

      Variant: p.F76Lfs*56 (c.224dup)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: Author reports variant as c.223insT, mapped to c.224dup.

      ClinVarID: N/A

      CAID: CA913189239, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA913189239

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication; plus_1_frameshift_variant

      CivicName: F76Lfs*56 (c.224dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:224 ProteinPosition:76 AminoAcidChange:PHEtoLEU ClinVarID:N/A CAID:CA913189239 MutationType:plus_1_frameshift_variant MutationType:duplication CivicName:F76Lfs*56 (c.224dup) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25078357/
  3. Nov 2026
  4. 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/