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    Von Willebrand disease type 2B with a novel mutation in the VWF gene
    1
    1. ClingenBaseline 24 Oct 2026
      c.4136 G>T

      Gene:VWF

      HGNCID:12726

      PMID33550910

      Case:38-year-old woman from Saudi Arabia

      DiseaseAssertion:VWD type 2B

      FamilyInfo:Mother and brother suffered from epistaxis (no genotypes). Two sons and one daughter: both sons carry the same mutation, but only one presents with minimal epistaxis.

      ParentalGenotype(s):Not available

      CasePresentingHPOs:HP:0001934, HP:0004846, HP:0011871

      CaseNOTHPOs:HP:0000421, HP:0000132

      CaseNOTHPOFreeText:multiple dental extractions without bleeding complications

      CaseHPOFreeRext:RIPA (+) Rist 0.5 mg/mL

      CasePreviousTesting:No

      GenotypingMethod:NGS

      Gene:VWF

      Variant:c.4136 G>T (p. R1379 L)

      HGVS:NC_000012.12:g.6019282C>A

      ClinVarID:

      CAID:CA383504438

      gnomAD:

      InheritancePattern:AutosomalDominan DiseaseEntity:VWD2B Mutation:Missense Zygosity:Heterozygous inferred_gene_hgnc:12726 inferred_gene_source:HGNC_body ClinGen VWF
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    annsaudimed.net/doi/full/10.5144/0256-4947.2021.59