Cystic Fibrosis Mutation Database

The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.

囊性纤维化突变数据库（CFTR1）由囊性纤维化遗传分析联盟于1989年启动，旨在增进并便利囊性纤维化研究人员之间的交流，并由多伦多儿童医院囊性纤维化中心负责维护。该数据库的特定目标是提供有关CFTR基因中个体突变的最新信息。在2010年的一次重大升级中，所有已知的CFTR突变和序列变异均已被转换为人类基因组变异学会推荐的标准命名法。