Hypothesis

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Last 7 days
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.

1
1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  Proband: F4_AM, 27yo (at report) female
  
  Phenotypes: HP:0030134, HP:0003010, HP:0030129
  
  Family: Both parents carry the variant. All het carriers were classified type 1
  
  Labs: FVIII 0.02 IU/mL, VWF 0.03 IU/mL (below detection threshold)
  
  Variant: NM_000552.5:c.4975C>T
  
  CAID: CA114141
  
  Proband VWD:3 HetAffectedFamily QuantVWD inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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Tags

ClinGen VWF

inferred_gene_hgnc:12726

QuantVWD

VWD:3

Proband

inferred_gene_source:CAID

HetAffectedFamily

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC1682774/