Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg1659Ter (p.R1659*)
(
ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease, Type 3
- Source Database
- DisGeNET
- Description
- The patient with VWD was found positive for homozygous truncating mutation R1659X in VWF gene, and all offspring were heterozygous carriers of null allele.
- Pubmed
- 20147343
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.492486326115694
- Year of publication
- 2010
Drugs