EAHAD F9 Database Latest News (February 2020)

An extensive programme of revision of published and unpublished data has been undertaken over the last 12 months. Many corrections and amendments have been made, for example updating of Human Genome Variant Society (HGVS) variant definitions, together with removal of duplicate case entries. In addition more than 1000 additional cases (including 92 previously undescribed variants) have been added during February 2020.
See Citing Us (below) for information on our recent EAHAD-DB publication.

    F9 Variants

Haemophilia B is usually caused by genetic variants (mutations) in the F9 gene which codes for coagulation factor IX (FIX). There are currently 1244 unique variants in the F9 gene compiled within this database corresponding to 4713 individual cases.

    What can you do in this database?

You can search for all the variants reported in the F9 gene. You can look in the database for all the sequence, structural and statistical information for the variants. You can also submit new variants and contribute to the genetic services provided through this database.

    F9 Variants at Leiden Open Variant Database (LOVD)

The basic F9 case data in this database are mirrored at LOVD: go here for F9 at LOVD.

Simple FIX Amino Acid Search

F9 Exon and Intron based search

    Codon/Amino-acid numbering: HGVS and Legacy   plus

    Classification of Variant Phenotype (Severity):   plus

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

    Acknowledgements   plus

    Citing us   plus

    Latest Release- Version 3.0 (February 2020)   plus

    Links to All EAHAD-DB Databases   plus

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