Gene Information
coagulation factor V [Source:HGNC Symbol;Acc:HGNC:3542]
F5 variants are associated with 6 diseases including cerebral sinovenous thrombosis and factor V atlanta bleeding disorder and 4 others, with 17 documented clinical phenotypes.
The F5 gene is associated with 6 medical conditions, including:
Research has identified 17 phenotypic features associated with F5 variants:
Adult onset
HP:0003581
Epistaxis
HP:0000421
Prolonged partial thromboplastin time
HP:0003645
Autosomal dominant inheritance
HP:0000006
Abnormal bleeding
HP:0001892
Preeclampsia
HP:0100602
Prolonged partial thromboplastin time
HP:0003645
Menorrhagia
HP:0000132
Prolonged whole-blood clotting time
HP:0005542
Reduced coagulation factor V activity
HP:0003225
Hypercoagulability
HP:0100724
Autosomal recessive inheritance
HP:0000007
Resistance to activated protein C
HP:0012175
Bruising susceptibility
HP:0000978
Prolonged prothrombin time
HP:0008151
ClinVar contains 10 variants associated with F5. Below are some notable variants:
NM_000130.5(F5):c.427G>A (p.Ala143Thr)
Uncertain significanceVCV004527463
Review: criteria provided, single submitter
NM_000130.5(F5):c.4975C>A (p.Arg1659Ser)
VCV004321481
NM_000130.5(F5):c.6584dup (p.Ile2196fs)
Likely pathogenicVCV004278197
Review: criteria provided, single submitter
NM_000130.5(F5):c.4195C>T (p.Gln1399Ter)
Likely pathogenicVCV004074749
Review: criteria provided, single submitter
NM_000130.5(F5):c.5752A>G (p.Ile1918Val)
Uncertain significanceVCV004072671
Review: criteria provided, single submitter
There are 3,894 publications about F5 indexed in PubMed. Below are some recent papers:
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y, Li X, Chen Y
PMID: 41259386
•
2025
•
PLoS One
Sublethal acephate concentrations alter the demographic and behavioral traits of the non-target larval parasitoid, Habrobracon hebetor (Say).
Pradhan PP, Gadratagi BG, Nayak U
PMID: 41258287
•
2025 Nov 19
•
Environ Sci Pollut Res Int
Neoadjuvant radio-chemo-immunotherapy impact on postoperative patient-reported outcomes in oesophageal cancer.
Hu Y, Cao Y, Wang X
PMID: 41247124
•
2025 Nov 17
•
Eur J Cardiothorac Surg
Association of safety climate with safety performance in pre-hospital emergency health services.
Oruç M, Gümüş R
PMID: 41246072
•
2025
•
Front Public Health
The Influence Mechanism of Extracurricular Activity Participation on the Perceived Improvement of Comprehensive Literacy Among Medical Students: The Mediating Role of Self-Efficacy.
Li W, Jiang X, Zhang M
PMID: 41245933
•
2025 Nov
•
Cureus
Get instant, comprehensive insights on F5 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025