1 Matching Annotations
  1. Last 7 days
  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 01 Nov 2026
      173_174insC

      PatientID: 1

      KindredID: 1

      Case: F, 18Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Family history involved.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: 'Other' phenotypes found in patient. These are noted in the paper to include: pancreatic neuroendocrine tumors (PNETs), renal and pancreatic cysts and central nervous system tumors, although it is not clearly stated that patient 1 has all. (See Table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P59Afs*73 (c.173_174insC)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVar: N/A

      CAID: CA658795188 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.173_174insC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: P59Afs*73 (c.173_174insC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:NM_000551.2 cDNAposition:173 ProteinPosition:59 AminoAcidChange:PROtoALA CAID:CA658795188 MutationType:plus_1_frameshift_variant Familial Ethnicity:Korean CivicName:P59Afs*73(c.173_174insC) ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2650969/