F8 Gene Variants

Haemophilia A is caused by variants in the gene that codes for coagulation factor VIII. There are currently 2015 unique variants in the F8 gene compiled within this database corresponding to 5480 individual cases.

    Citing us

If you find this website useful, please reference our publication:
Rallapalli PM, Kemball-Cook G, Tuddenham EG, Gomez K, Perkins SJ (2014) - Manuscript in Preparation

    What can you do in this database ?

You can search for all the variants reported in the F8 gene from 1986-2010, with more to be added during 2015.
You can look in the database for all the sequence, structural and statistical information on the gene variants. You can also submit new mutations/variants and contribute to the genetic services provided through this database.

Simple Amino Acid Search


Exon and Intron based search


    Codon/Amino-acid numbering: HGVS and Legacy  

    Classification of Variant Phenotype  

    Have you or someone you know been diagnosed with haemophilia A?  


    Latest Release- Version 1.3 (November 2014)  

The information contained on this web site is provided for research purposes only. All information and content on this web site are protected by copyright. All rights are reserved.