1 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    1
    1. ClingenBaseline 25 Oct 2026
      c.341-6C > T (intron 1)

      PatientID: None

      KindredID: 5

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: dilatation of the cerebral artery

      FamilyInfo: None

      CasePresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      CaseHPOFreeText: Patient had an intracranial aneurysm

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.341-6C>T

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 371898 https://www.ncbi.nlm.nih.gov/clinvar/variation/371898/

      CAID: N/A

      gnomAD: 0.00008132 https://gnomad.broadinstitute.org/variant/3-10188192-C-T

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (341-6C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 ClinVarID:371898 ClinVarID:Yes cDNAposition:341 NoFamilyInfo MutationType:splice_site_variant CivicName:SpliceSite(341-6C>T) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1052305713000220