Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg854Gln (p.R854Q)
(
ENST00000261405.10 )
VWF p.Gln852Arg (p.Q852R) ( ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Gln852Arg (p.Q852R) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease
- Source Database
- DisGeNET
- Description
- A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.
- Pubmed
- 1581215
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.249618745023685
- Year of publication
- 1992
Drugs