F5 |
- 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)