Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7 ). Integration of genetic variation with functional consequences on protein function is essential for the interpretation of the pathogenicity of novel variants. Here, we describe the integration of previous locus‐specific databases for F7 into a single curated database with enhanced features. The database 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. The variant data is shared with the F7 Leiden Open Variation Database. The updated database now includes 221 unique variants, representing gene variants identified in 728 individuals. Single nucleotide variants are the most common type (88%) with missense representing 74% of these variants. A number of variants are found with relatively high minor allele frequencies that are not pathogenic but contribute significantly to the likely pathogenicity of coinherited variants due to their effect on FVII plasma levels. This comprehensive collection of curated information significantly aids the assessment of pathogenicity.

中文翻译：

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EAHAD 凝血因子 VII 变异数据库。

遗传性凝血因子 VII (FVII) 缺乏症是一种罕见的常染色体隐性出血性疾病，由编码 FVII ( F7 )的基因变异引起。遗传变异与蛋白质功能的功能后果的整合对于解释新变异的致病性至关重要。在这里，我们描述了将以前的F7位点特定数据库集成到具有增强功能的单个精选数据库中。该数据库提供了对计算机分析的访问，这些分析可能有助于预测变异的致病性以及跨物种序列比对、结构信息以及在适当情况下描述的每个变异的功能和临床严重程度。变体数据与F7共享莱顿开放变异数据库。更新后的数据库现在包括 221 个独特的变异，代表在 728 个个体中鉴定的基因变异。单核苷酸变体是最常见的类型 (88%)，其中错义占这些变体的 74%。许多变异被发现具有相对较高的次要等位基因频率，这些变异不是致病性的，但由于它们对 FVII 血浆水平的影响，对共同遗传变异的可能致病性有显着影响。这种全面收集的精选信息极大地有助于评估致病性。