Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

F5

Gene name: coagulation factor V
OMIM ID: 612309
Chromosome location: 1q24.2

Mutations

Disease/PhenotypeFactor V deficiency
Reference transcriptNM_000130.4
DNA Changec.2401C>T
A.A. Changep.Gln801X
Exon/Intronexon 13
Mutation Typesubstitution
Referencevan 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/PhenotypeStroke, ischemic, susceptibility to
Reference transcriptNM_000130.4
DNA Changec.2401C>T
A.A. Changep.Gln801X
Exon/Intronexon 13
Variation Typesubstitution
Reference SNPrs118203908
Cases170 patients
Controls211 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C193 (56.8%)351 (83.2%)1
T147 (43.2%)71 (16.8%)3.77 (2.70-5.25)<0.0001
CC57 (33.5%)150 (71.1%)1
CT79 (46.5%)51 (24.2%) 4.08 (2.55-6.49)<0.0001
TT 34 (20.0%)10 (4.7%)8.95 (4.15-19.29)<0.0001
ReferenceDiakite 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.