Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg854Gln (p.R854Q)
(
ENST00000261405.10 )
VWF p.Gln852Arg (p.Q852R) ( ENST00000261405.10 )
VWF p.Arg763Gly (p.R763G) ( ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Gln852Arg (p.Q852R) ( ENST00000261405.10 )
VWF p.Arg763Gly (p.R763G) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease, Type 2N
- Source Database
- DisGeNET
- Description
- Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
- Pubmed
- 16953269
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.245895776315646
- Year of publication
- 2006
Drugs