EAHAD DBs Latest: Mar 2022 - F7 Database Updated to 2021

See Citing Us (below) for information on our recent papers on the EAHAD DBs.

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.

F8 Gene Variants

Haemophilia A is caused by variants in the gene F8 that codes for coagulation factor VIII. F8 gene inversions (in c.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.
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 DB are mirrored at LOVD: F8 at LOVD.

Simple Amino Acid Search

HGVS
Legacy

Exon and Intron based search

Exon
Intron

Reference Sequences and Nomenclature (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

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