Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Cys2362Phe (p.C2362F)
(
ENST00000261405.10 )
VWF p.Cys2362Phe (p.C2362F) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease
- Source Database
- DisGeNET
- Description
- A novel null mutation (2908del C in exon 22) of the von Willebrand factor (VWF) gene was identified in compound heterozygosity with the missense mutation G7335T (C2362F) in exon 42 in a propositus from a new family with autosomal recessive von Willebrand disease (VWD).
- Pubmed
- 17109387
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.249618745023685
- Year of publication
- 2007
Drugs