View gene F5

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
Associated with diseases BDCHS, F5D, RPRGL-1, THPH-2, stroke, ischemic, susceptibility to
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Daniel J Hampshire
Total number of public variants reported 5
Unique public DNA variants reported 2
Individuals with public variants 142
Hidden variants 0
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 October 24, 2015
Version F5:151024

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/F5
External URL EAHAD Coagulation Factor Variant Databases
Orphanet
HGNC 3542
Entrez Gene 2153
PubMed articles F5
OMIM - Gene 612309
OMIM - Diseases BDCHS (Budd-Chiari syndrome (BDCHS))
F5D (factor V deficiency (F5D))
RPRGL-1 (pregnancy loss, recurrent, susceptibility to, type 1 (RPRGL-1))
THPH-2 (thrombophilia, type 2, F5-related (THPH-2))
stroke, ischemic, susceptibility to
HGMD F5
GeneCards F5
GeneTests 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 5


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.