Hemophilia Variant Database Protocol

The cDNA numbering system was compliant with the Human Genome Variation Society recommendations ver. 15.11 (http://varnomen.hgvs.org (accessed on 25 December 2022)). Amino acid numbering was based upon the start methionine, as codon +1. The reference sequence was NG_011403.2 for genomic positioning and NM_000132.4 for cDNA numbering. As reference databases for pathogenic variants, we used the Factor VIII Variant Database (f8-db.eahad.org (accessed on 25 December 2022)), Human Gene Mutation Database (www.hgmd.cf.ac.uk (accessed on 25 December 2022)), and CHAMP (https://www.cdc.gov/ncbddd/hemophilia/champs.html (accessed on 25 December 2022)).

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Pshenichnikova O., Salomashkina V., Poznyakova J., Selivanova D., Chernetskaya D., Yakovleva E., Dimitrieva O., Likhacheva E., Perina F., Zozulya N, & Surin V. (2023). Spectrum of Causative Mutations in Patients with Hemophilia A in Russia. Genes, 14(2), 260.

Publication 2023

Amino acid Cdna Codon Factor viii Genomic Hemophilia Hgvs Human Human genome Methionine Mutation Pathogenic

Corresponding Organization : National Research Center for Hematology Russian Academy of Medical Sciences

Other organizations : Regional Children's Clinical Hospital No. 1

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