r3d100012093 Cystic Fibrosis Mutation Database CFMDB CFTR1 http://www.genet.sickkids.on.ca/cftr/app RRID:SCR_000685 RRID:nif-0000-21105 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. cftr.admin@genet.sickkids.on.ca http://www.genet.sickkids.on.ca/cftr/Contact.html jrommens@sickkids.ca disciplinary 2.110 mutations eng 2 Life Sciences 201 Basic Biological and Medical Research 20105 General Genetics 205 Medicine 20503 Human Genetics 21 Biology 22 Medicine http://www.genet.sickkids.on.ca/cftr/ConsortiumBackgroundPage.html Plain text Scientific and statistical data formats Structured graphics dataProvider CF CFMDB CFTR2 disease dna sequence genetic variation genomics genotype mutation phenotype polymorphism The Hospital for Sick Children, Cystic Fibrosis Centre CAN general non-profit https://www.sickkids.ca/en/care-services/centres/cystic-fibrosis-centre/ https://www.sickkids.ca/en/about/contact/ The Hospital for Sick Children, The Centre for Applied Genomics TCAG CAN technical non-profit http://www.tcag.ca/projects/databases.html Guidelines of Cystic Fibrosis Consortium http://www.genet.sickkids.on.ca/cftr/ConsortiumGuidelinesPage.html Notice and Disclaimer/Limitation of Liability of Database Use http://www.tcag.ca/projects/databaseDisclaimer.html SickKids Terms of Use https://www.sickkids.ca/en/about/terms-of-use/ TCAG Facilities Terms and Conditions http://www.tcag.ca/facilities/terms.html TCAG Facilities Terms and Conditions download http://www.tcag.ca/documents/terms-conditions_2016.pdf open open other http://www.tcag.ca/facilities/terms.html restricted other none yes yes Repository-Developed Metadata Schemas http://www.dcc.ac.uk/resources/metadata-standards/repository-developed-metadata-schemas 2016-07-27 2022-12-14