F7 gene homepage

General information
Gene symbol F7
Gene name coagulation factor VII (serum prothrombin conversion accelerator)
Chromosome 13
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_009262.1
Transcript reference NM_000131.4
Exon/intron information NM_000131.4 exon/intron table
Associated with diseases F7D, MCI-1
Citation reference(s) PubMed: Giansily-Blaizot et al., 2020
PubMed: McVey et al., 2020
Refseq URL Genomic reference sequence
Curators (3) Muriel Giansily-Blaizot, John H McVey and Daniel J Hampshire
Total number of public variants reported 469
Unique public DNA variants reported 144
Individuals with public variants 334
Hidden variants 2
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created April 29, 2010
Date last updated September 15, 2020
Version F7:200915

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_000131.4.
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/F7
External URL EAHAD Coagulation Factor Variant Databases
EAHAD F7 Variant Database
Orphanet
HGNC 3544
Entrez Gene 2155
PubMed articles F7
OMIM - Gene 613878
OMIM - Diseases F7D (deficiency, factor VII (F7D))
MCI-1 (myocardial infarction, susceptibility to, type 1 (MCI-1))
HGMD F7
GeneCards F7
GeneTests F7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007340 13 transcript variant 1 NM_000131.4 NP_000122.1 469


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.