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F5

coagulation factor V

HCNC Approved Symbol
F5 (HGNC:3542)
Genomic Coordinates
1:169,511,951 - 169,586,481 (1q24.2)
Synonyms
Disease Associations
This gene is associated with the following 6 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Budd-Chiari syndrome}
600880AR
{Pregnancy loss, recurrent, susceptibility to, 1}
614389AD
{Stroke, ischemic, susceptibility to}
601367Multifactorial
{Thrombophilia, susceptibility to, due to factor V Leiden}
188055AD
Factor V deficiency
227400AR
Thrombophilia 2 due to activated protein C resistance
188055AD

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the F5 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Spontaneous abortion
 5 (62.5%)
Factor v deficiency
 2 (25.0%)
Menstrual irregularity
 
1 (12.5%)
Cataract, congenital
 
1 (12.5%)
Prolonged partial thromboplastin time
 
1 (12.5%)