Cystic Fibrosis Mutation Database

The Cystic Fibrosis Mutation Database provides search options for CFTR gene information, including genomic DNA, mRNA, and polypeptide sequences.

genet.sickkids.on.ca/cftr/app
Cystic Fibrosis Mutation Database homepage screenshot

About Cystic Fibrosis Mutation Database

The Cystic Fibrosis Mutation Database (CFTR1) collects 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 and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. It offers graphic, basic text, and advanced text search, with CFTR genomic DNA, mRNA (cDNA) and polypeptide sequences, CFTR domains, and mouse CFTR genomic sequence, plus an online process for submitting new mutations.

Clinical information in the database relates only to details of discovery of specific mutations, with links to CFTR2 for genotype-phenotype summaries from patient registries. Mutations use standard nomenclature recommended by the Human Genome Variation Society, and the former Mutation Name is listed as Legacy Name. The database was last updated on Apr 25, 2011.

Key features

  • Graphic, basic text, and advanced text search
  • Genomic DNA sequence for CFTR gene
  • mRNA (cDNA) and polypeptide sequence data
  • CFTR domains information
  • Mouse CFTR genomic sequence
  • Online submission process for new mutations
Best for: Researchers in cystic fibrosis genetics who work with CFTR mutations and sequence variants.
Good for
  • Uses standard nomenclature recommended by the Human Genome Variation Society
  • Maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto
  • Links to CFTR2 for genotype-phenotype summaries from patient registries
Watch out for
  • Clinical information relates only to details of discovery of specific mutations
  • General information on cystic fibrosis requires using linked sites
  • The database was last updated on Apr 25, 2011

Cystic Fibrosis Mutation Database at a glance

Type
Website
Pricing
Not confirmed. Check the site
Platforms
Web
Open source
Not stated
Last checked
Oct 5, 2026 · Online when checked
Listed
Oct 5, 2026

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Cystic Fibrosis Mutation Database FAQ

What happened to the old "Mutation Name"?
The old "Mutation Name" is now the "Legacy Name".
Does the database include full clinical details for mutations?
No. Clinical information relates only to details of discovery of specific mutations; links to CFTR2 provide genotype-phenotype summaries from patient registries.
How can I submit a new mutation?
Use the online submission process and contact cftr.admin for assistance.
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