EAHAD F8 Database Latest News

We hope users will enjoy the updated appearance of the website (December 2020).
During 2019 over 4500 additional cases were added to the EAHAD F8 database, including over 1000 new unique variants. There are currently 3052 unique variants in the F8 gene compiled within this database corresponding to 10144 individual cases.
See Citing Us (below) for information on our recent publication describing the EAHAD coagulation factor databases.

F8 Gene Variants

Haemophilia A is caused by variants in the gene F8 that codes for coagulation factor VIII. F8 gene inversions (which result in roughly 50% of severe cases) are not listed in this database.

What can you do in this database ?

You can search for variants reported in the F8 gene, with more to be added during 2021.
You can look in the database for sequence, structural and statistical information on the gene variants. You can also submit new mutations/variants to EAHAD and thus contribute to the genetic services provided through this database.

F8 Variants at Leiden Open Variant Database (LOVD)

The basic F8 case data in this database are mirrored at LOVD: go here for F8 at LOVD.

Simple Amino Acid Search

HGVS
Legacy

Exon and Intron based search

Exon
Intron

Codon/Amino-acid numbering: HGVS and Legacy


Classification of Variant Phenotype


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


Acknowledgements


Citing us


Latest Release- Version 3.1 (December 2020)


Links to All EAHAD-DB Databases

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.