By Emeritus Prof. Christopher Ludlam and Prof. John McVey, EAHAD-DB Coagulation Factor Variant Database Steering Group
The updated EAHAD Factor VII Gene (F7) Variant Database is now available at www.f7-db.eahad.org
The database now includes 221 unique variants, representing gene variants identified in 728 individuals. For any variant it is possible to obtain the description at cDNA and amino acid (both HGVS and legacy) levels, its type and location within the gene and protein. Each individual reported carrying the variant is displayed along with the reported clinical severity, whether the individual is hetero- or homozygous for the variant and any other variants identified in each individual.
The database also provides access to in silico analyses that may be useful in the prediction of variant pathogenicity, as well as cross-species sequence alignments, structural information and functional and clinical severity described for each variant where appropriate.
This comprehensive collection of curated information significantly aids the assessment of pathogenicity.
We welcome any comments and feedback to db-admin@eahad.org