1 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
    1
    1. ClingenBaseline 21 Oct 2026
      1

      Case: 2M-2

      DiseaseAssertion: VWD2M

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs: AcuStar RCo/Ag = 0.01; AcuStar CB/Ag = 1.16; ELISA CB/Ag = 1.41

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: not described

      PreviouslyPublished: 1409710

      Gene: VWF

      Variant: c.3970G>A (p.Gly1324Ser)

      HGVS: NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)

      ClinVarID: 300; https://www.ncbi.nlm.nih.gov/clinvar/variation/300/?new_evidence=false

      CAID:

      gnomAD: MAF = 0.00003267 in South Asian population; https://gnomad.broadinstitute.org/variant/12-6128614-C-T

      Individual CaseInfo PreviouslyPublished Gene:VWF DiseaseEntity:VWD2M InheritancePattern:NoInheritanceAssertion Mutation:Missense Zygosity:NoZygosityAssertion ClinVarID:300 inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1111/ijlh.12743