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