Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Cys1060Arg (p.C1060R)
(
ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Arg816Trp (p.R816W) ( ENST00000261405.10 )
VWF p.Cys804Phe (p.C804F) ( ENST00000261405.10 )
VWF p.Tyr795Cys (p.Y795C) ( ENST00000261405.10 )
VWF p.Thr791Met (p.T791M) ( ENST00000261405.10 )
VWF p.Tyr357Ter (p.Y357*) ( ENST00000261405.10 )
VWF p.Cys1060Arg (p.C1060R) ( ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Arg816Trp (p.R816W) ( ENST00000261405.10 )
VWF p.Cys804Phe (p.C804F) ( ENST00000261405.10 )
VWF p.Tyr795Cys (p.Y795C) ( ENST00000261405.10 )
VWF p.Thr791Met (p.T791M) ( ENST00000261405.10 )
VWF p.Tyr357Ter (p.Y357*) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease, Type 2N
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.245895776315646
- Year of publication
- NA
Drugs