Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Cys1130Phe (p.C1130F)
(
ENST00000261405.10 )
VWF p.Cys1130Phe (p.C1130F) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease, Type 1
- Source Database
- DisGeNET
- Description
- Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect.
- Pubmed
- 10792299
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.588968335442472
- Year of publication
- 2000
Drugs