F9 Variants

Haemophilia B is caused by Variants (mutations) in the F9 gene which codes for coagulation factor IX. There are currently 1095 unique variants in the F9 gene compiled within this database corresponding to 3713 individual cases.


Citing us

If you find this website useful, please reference our publication:

Rallapalli, P.M., Kemball-Cook, G., Tuddenham, E.G., Gomez, K., & Perkins, S.J. 2013. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of haemophilia B. J.Thromb.Haemost. available from: PM:23617593

What can you do in this database?

You can search for all the mutations reported in the F9 gene prior to the database release date. You can look in the database for all the sequence, structural and statistical information for the mutations. You can also submit new mutations 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 (Severity):  


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


    Acknowledgements  


    Latest Release- Version 1.4 (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.