1 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
    1
    1. ClingenBaseline 04 Nov 2026
      F6, II.1c.492G>T/c.340+574A>T*VHL p.Gln164His/SA2014/6 moM15.6496.91167Splenomegaly—

      atientID: II.1

      KindredID: F6

      Case: M, 0Y6M, Ethnicity Unknown

      DiseaseAssertion: Splenomegaly

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001744 (Splenomegaly)

      CaseHPOFreeText: Diagnosed with splenomegaly at age 6 months (DOB: 2014).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.340+574A>T

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1040488, https://www.ncbi.nlm.nih.gov/clinvar/variation/1040488/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variants are heterozygous.

      MutationType: missense_variant;transversion; splice_site_variant

      CivicName: Q164H (c.492G>T) and c.340+574A>T

      MultipleGeneVariants: Germline, VHL, c.492G>T (p.Gln164His)

      InheritancePattern:AutosomalDominant DiseaseEntity:splenomegaly AgeOfPresentation:splenomegaly:0 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:1040488 ClinVarID:Yes MultipleVHLVariants MutationType:missense_variant;transversion MutationType:splice_site_variant CivicName:Q164H(c.492G>T)andc.340+574A>T FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0006497120320206