Factor V deficiency
OMIM:227400Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | F5 |
|---|---|
| Reference transcript | NM_000130.4 |
| DNA Change | c.2401C>T |
| A.A. Change | p.Gln801X |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | van Wijk R, Nieuwenhuis K, van den Berg M, Huizinga EG, van der Meijden BB, Kraaijenhagen RJ, van Solinge WW.Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood. 2001 Jul 15;98(2):358-67. |