F5
Gene name: coagulation factor VOMIM ID: 612309
Chromosome location: 1q24.2
Mutations
| Disease/Phenotype | Factor V deficiency |
|---|---|
| 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. |
Polymorphisms
| Disease/Phenotype | Stroke, ischemic, susceptibility to | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_000130.4 | ||||||||||||||||||||||||||||||
| DNA Change | c.2401C>T | ||||||||||||||||||||||||||||||
| A.A. Change | p.Gln801X | ||||||||||||||||||||||||||||||
| Exon/Intron | exon 13 | ||||||||||||||||||||||||||||||
| Variation Type | substitution | ||||||||||||||||||||||||||||||
| Reference SNP | rs118203908 | ||||||||||||||||||||||||||||||
| Cases | 170 patients | ||||||||||||||||||||||||||||||
| Controls | 211 healthy controls | ||||||||||||||||||||||||||||||
| Frequency |
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| Reference | Diakite B1, Hamzi K, Hmimech W, Nadifi S; GMRAVC.First study of C2491T FV mutation with ischaemic stroke risk in Morocco. J Genet. 2015 Jun;94(2):313-5. |