The F5 gene homepage

General information
Gene symbol F5
Gene name coagulation factor V (proaccelerin, labile factor)
Chromosome 1
Chromosomal band q24.2
Imprinted Unknown
Genomic reference NG_011806.1
Transcript reference NM_000130.4
Exon/intron information NM_000130.4 exon/intron table
Associated with diseases BDCHS, PARAHEMOPHILIA, RPRGL, RPRGL1, THPH2, stroke, ischemic, susceptibility to
Citation reference(s) PubMed: McVey et al., 2020
Refseq URL Genomic reference sequence
Curators (1) Daniel J Hampshire
Total number of public variants reported 229
Unique public DNA variants reported 178
Individuals with public variants 361
Hidden variants 3
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created September 13, 2012
Date last updated February 26, 2024
Version F5:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000130.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/F5
External URL EAHAD Coagulation Factor Variant Databases
HGNC 3542
Entrez Gene 2153
PubMed articles F5
OMIM - Gene 612309
OMIM - Diseases BDCHS (Budd-Chiari syndrome (BDCHS))
PARAHEMOPHILIA (deficiency, factor V (F5D))
RPRGL1 (pregnancy loss, recurrent, susceptibility to, type 1 (RPRGL-1))
THPH2 (thrombophilia, due to activated protein C resistance (THPH2))
stroke, ischemic, susceptibility to
HGMD F5
GeneCards F5
GeneTests F5
Orphanet F5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001413 1 coagulation factor V (proaccelerin, labile factor) NM_000130.4 NP_000121.2 229


Copyright & disclaimer
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Mutation Databases are maintained and provided as a public service for the clinical, diagnostic and coagulation factor research communities. All individuals accessing and using the information contained in these mutation databases managed by EAHAD explicitly agree to abide by the database policy.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.