1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: 22011, Age 67, Male, Blood Type A- (Table S3)

      Disease Assertion: VWD 1

      FamilyInfo: The patient is the only member of Family#2207.

      Parental Genotype: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Bleeding score 7, VWF:Ag: 18, VWF:RCo:16, FVIII:C:46, VWF:CBNM_0:14

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Protein Expression: N/A

      CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

      Gene: VWF

      Variant: NM_000552.4:c.6799-47G>A (p.=), NM_000552.4:c.7464C>T (p.Gly2488=), NM_000552.4:c.998-46C>T (p.=)

      ClinVar: 619755 ClinVar1

      CAID: CA6401901, CA232284628, CA6403602 CAID1 CAID2 CAID3

      gnomAD: MAF of 0.0005876 (17/ 28930 alleles) in the South Asian population (CA6401901). gnomAD1

      MAF of 0.000008799 (1/ 113644 alleles) in the European (non-Finnish) population (CA232284628). gnomAD2

      MAF of 0.00007581 (8/105528 alleles) in the European (non-Finnish) population (CA6403602) gnomAD3

      Individual CaseInfo Gene:VWF DiseaseEntity:VWD1 InheritancePattern:NoInheritanceAssertion SupplementalData Zygosity:Homozygous CAID:CA6401901 ClinVar:619755 CAID:CA232284628 CAID:CA6403602 Mutation:Intronic inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5709099/