F8 gene homepage

General information
Gene symbol F8
Gene name coagulation factor VIII, procoagulant component
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_011403.1
Transcript reference NM_000132.3
Exon/intron information NM_000132.3 exon/intron table
Associated with diseases HEMA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Geoffrey Kemball-Cook
Total number of public variants reported 5478
Unique public DNA variants reported 1964
Individuals with public variants 5422
Hidden variants 0
Date created March 06, 2009
Date last updated May 22, 2017
Version F8:170522

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_000132.3.
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/F8
External URL EAHAD Coagulation Factor Variant Databases
Factor VIII Variant Database
Orphanet
HGNC 3546
Entrez Gene 2157
PubMed articles F8
OMIM - Gene 300841
OMIM - Diseases HEMA (hemophilia A (HEMA))
HGMD F8
GeneCards F8
GeneTests F8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000322 X transcript variant 1 NM_000132.3 NP_000123.1 5478


Copyright & disclaimer
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant 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.