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 Scientific/medical view
The CFTR2 project is partially supported by Grant Number 5R37DK044003 from the National Institute of Digestive, Diabetes and Kidney Diseases of the National Institutes of Health, by funding from the US Cystic Fibrosis Foundation, and by an unrestricted educational grant from Sequenom to the US Cystic Fibrosis Foundation.
Welcome to the Clinical and Functional Translation of CFTR (CFTR2) website
   CFTR2 is a website designed to provide information about specific cystic fibrosis (CF) mutations to patients, researchers, and the general public. For each mutation included in the database, the website will provide information about:
  • Whether the mutation causes cystic fibrosis when combined with another CF-causing mutation, and
  • Information about the sweat chloride, lung function, pancreatic status, and pseudomonas infection rates in patients in the CFTR2 database with this mutation.

Information on the CFTR2 website is being updated as further analysis is completed. The most up-to-date clinical information and results of functional testing are available on individual mutation pages. For a complete list of CFTR2 mutations and their characterizations, please visit CFTR2 Mutation List History (available under the Quick Links menu)
The CFTR2 project has recently undergone an update, increasing the number of patient included from ~35,000 to over 88,000 patients from 41 countries around the world. Clinical data for specific CFTR mutations may have changed slightly with this update. Additional mutations are also now available for search. Additional mutations and any mutation characterization updates can be viewed under “CFTR2 Mutation List History” in QuickLinks menu.


For patients and family members

   This website provides information about specific CF mutations only. This website is intended for members of the general public who want to find out what we currently know about specific mutations related to cystic fibrosis.
  This includes:
  • Cystic fibrosis (CF) patients,
  • Family members of CF patients,
  • People who are carriers of a CF mutation, and
  • Parents whose baby has just been diagnosed with CF through newborn screening.

For health care providers/scientists

   This section provides scientific and medical descriptions, intended for CF researchers, health professionals, and members of the general public that are looking for more in-depth, research-related information. Patients and their families are encouraged to visit the section "For patients and family members" first.


  • This website is not intended to help diagnose anyone with CF.
   For more information about CF, click here .
   Note: *If you have questions about any of the information contained in this website, please consult your doctor.
Enter the site for CF patients, family members, or carriersEnter the site for health care providers/scientists