1 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease
    1
    1. ClingenBaseline 21 Oct 2026
      An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease

      PMID: 21393328

      Gene: VWF

      HGNCID: 12726

      Case: proband (III-3 in Fig.1) is 15 year old female

      DiseaseAssertion: type 1 VWD

      FamilyInfo: Mother (II-3 in Fig.1) and grandmother (I-1) are symptomatic (moderate clinical bleeding symptoms). Father and sister asymptomatic.

      ParentalGenotype(s): mother c.7056 C>T

      CasePresentingHPOs: HP:0000421, HP:0000132, HP:0011889, HP:0000225

      CaseHPOFreeRext: mild decrease in VWF:Ag, VWF:CB and VWF:RCo. platelet VWF:Ag content was reduced. Decreased VWF multimer levels

      GenotypingMethod: Sanger sequencing, cDNA analysis

      Gene: VWF

      Variant: c.7056 C>T (affects splicing) aka c.7055_7081del

      ClinVarID: 631688

      gnomAD: AF=0.000007993 gnomAD aggregated (2/250226 alleles) https://gnomad.broadinstitute.org/variant/12-6092341-G-A?dataset=gnomad_r2_1

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 AlleleOrigin:Germline Zygosity:Heterozygous ClinVarID:631688 FamilyInfo inferred_gene_hgnc:12726 inferred_gene_source:HGNC_body ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC3105650/