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