Annotation Detail
Information
- Associated Genes
- F5
- Associated Variants
-
F5 p.Gln534= (p.Q534=)
(
ENST00000367796.3,
ENST00000367797.9 )
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 ) - Associated Disease
- Factor V Leiden mutation
- Source Database
- DisGeNET
- Description
- Venous thrombosis with both heterozygous factor V Leiden (R507Q) and factor II (G20210A) mutations.
- Pubmed
- 23330508
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.082367031978602
- Year of publication
- 2012
Drugs