• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
F5 (HGNC:3542) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
coagulation factor V
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
66.18(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.56(Read more about gnomAD LOEUF score)
Cytoband
1q24.2
Genomic Coordinates
GRCh37/hg19: chr1:169481189-169555719 NCBI Ensembl UCSC
GRCh38/hg38: chr1:169511951-169586481 NCBI Ensembl UCSC
MANE Select Transcript
NM_000130.5 ENST00000367797.9 (Read more about MANE Select)
Function
Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26457
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/11/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital factor V deficiency Monarch
HI Evidence:
  • PUBMED: 11435304
    van Wijik et al report three patients with factor V deficiency diagnosed based on bleeding events or a family history of bleeding events and significantly reduced FV activity in the proband. They sequenced the F5 gene and found that one patient was homozygous for a nonsense variant, one was homozygous for a frameshift variant, and one was compound heterozygous for a frameshift and missense variant. The authors also summarize the findings for nine previously published patients with severely reduced FV activity and bi-allelic F5 variants including three nonsense, four frameshift, and two missense variants.
  • PUBMED: 19598066
    Peyvandi and Asselta review factor V deficiency. They mention that >2/3 of previously published mutations are null variants and that heterozygous carriers have half-normal FV activity, but are usually asymptomatic.
HI Evidence Comments:
Individuals with biallelic loss-of-function variants in the F5 gene have factor V deficiency. Factor V Leiden Thrombophila is caused by the presence of the Arg506Gln missense change (either one or two copies), which renders the protein resistant to cleavage by the activated protein C (see GeneReviews PMID 20301542).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No duplications involving only the entire F5 gene reported

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)