Hypothesis

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A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  273568T>CC1190R0.410.240.590.140.340.568——1130
  
  Variant: CA228423
  
  Notes: likely type 2A variant in het, with patient and recombinant multimers. However, they show supranormal multimers and an asserted loss of triplet structure
  
  CA228423 Cys1190Arg inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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Tags

CA228423

ClinGen VWF

inferred_gene_source:CAID

inferred_gene_hgnc:12726

Cys1190Arg

Annotators

ClingenBaseline

URL

sciencedirect.com/science/article/pii/S0006497120349107