Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Pro812ArgfsTer31 (p.P812Rfs*31)
(
ENST00000261405.10 )
VWF p.Pro812ArgfsTer31 (p.P812Rfs*31) ( ENST00000261405.10 )
VWF p.Arg2535Ter (p.R2535*) ( ENST00000261405.10 )
VWF p.Cys2362Phe (p.C2362F) ( ENST00000261405.10 )
VWF p.Pro2063Ser (p.P2063S) ( ENST00000261405.10 )
VWF p.Arg1853Ter (p.R1853*) ( ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
VWF p.Arg2535Ter (p.R2535*) ( ENST00000261405.10 )
VWF p.Cys2362Phe (p.C2362F) ( ENST00000261405.10 )
VWF p.Pro2063Ser (p.P2063S) ( ENST00000261405.10 )
VWF p.Arg1853Ter (p.R1853*) ( ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease, Type 3
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.492486326115694
- Year of publication
- NA
Drugs