Former users: Please note that the old "Mutation Name" is now the "Legacy Name".
Please contact CFTR.admin with comments/problems.
Welcome to the Cystic Fibrosis Mutation Database (CFTR1), devoted to the collection of mutations in the CFTR gene for the international
cystic fibrosis genetics research community. It 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
In addition, an on-line process for the submission of new mutations has been added. While we will continue to ensure the quality of the data,
we urge the international community to give us feedback and suggestions. Please send email to cftr.admin
Clinical information in this database relates only to the details of discovery of specific mutations. As part of the 2010 upgrade,
CFTR1 joins a new project called CFTR2
- The C
linical and F
anslation of CFTR.
This is an international initiative led by a team of researchers and clinicians and supported by the US Cystic Fibrosis Foundation
that seeks to provide complete, advanced and expert-reviewed functional and clinical information on CFTR mutations.
Links to CFTR2 for many mutations in CFTR1 will provide up-to-date summaries of genotype-phenotype information from patient registries around the world.
For general information on cystic fibrosis, please use our linked sites.
All institutions and key personnel contributing to CFTR1 receive recognition on this website. If you note any errors in this information, or if you need assistance with making a submission please contact cftr.admin