Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg1853Ter (p.R1853*)
(
ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
VWF p.Arg1205Leu (p.R1205L) ( ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Cys1149Arg (p.C1149R) ( ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Arg760His (p.R760H) ( ENST00000261405.10 )
VWF p.Arg1853Ter (p.R1853*) ( ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
VWF p.Arg1205Leu (p.R1205L) ( ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Cys1149Arg (p.C1149R) ( ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Arg760His (p.R760H) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease, Type 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.588968335442472
- Year of publication
- NA
Drugs