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Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

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1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  We report the characterization of a homozygous VWD 2N mutation, R854W, detected in a patient with a severe VWD phenotype.
  
  NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)
  
  Case Individual CaseInfo ClinVarID:100228 inferred_gene_hgnc:3097 inferred_gene_source:ClinVar ClinGen VWF
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inferred_gene_hgnc:3097

ClinVarID:100228

inferred_gene_source:ClinVar

Individual

Case

ClinGen VWF

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ClingenBaseline

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onlinelibrary.wiley.com/doi/10.1111/j.1538-7836.2010.03971.x