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    Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L
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    1. ClingenBaseline 21 Oct 2026
      The p.P1413L variant was detected in a patient with 44 IU/dL VWF:Ag, 58 IU/dL FVIII:C, 39 IU/dL VWF:RCo, and 37 IU/dL VWF:CB levels (Table I).

      Case: P1413L heterozygous

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: FVIII:C = 58 IU/dL, VWF:RCo = 39 IU/dL, VWF:Ag = 44 IU/dL, VWF:CB = 37 IU/dL, VWF:RCo/VWF:Ag = 0.89

      CaseNOTHPOs: HP:0030132

      (Absence of large von Willebrand factor multimers)

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NA

      PreviouslyPublished: PMID: 16985174

      Gene: VWF

      Variant: c.4238C>T (p.Pro1413Leu)

      HGVS: NM_000552.4(VWF):c.4238C>T (p.Pro1413Leu)

      ClinVarID: 100342; https://www.ncbi.nlm.nih.gov/clinvar/variation/100342/

      CAID:

      gnomAD: MAF of 0.00003266 (1/30616 alleles) in the South Asian population

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:100342 PreviouslyPublished inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5649964/