URL: http://www.genet.sickkids.on.ca/cftr/
Proper Citation: Cystic Fibrosis Mutation Database (RRID:SCR_000685)
Description: Collection of mutations in CFTR gene for international cystic fibrosis genetics research community. Provides up to date information about individual mutations in CFTR gene. All known CFTR mutations and sequence variants have been converted to standard nomenclature recommended by Human Genome Variation Society. On line process for submission of new mutations has been added.While they continue to ensure quality of data, they urge international community to give them feedback and suggestions. Clinical information in this database relates only to details of discovery of specific mutations. As part of 2010 upgrade, CFTR1 joined new project called CFTR2 - Clinical and Functional TRanslation of CFTR. Links to CFTR2 for many mutations in CFTR1 will provide up-to-date summaries of genotype-phenotype information from patient registries around the world.
Abbreviations: CFTR1, CFMDB
Resource Type: service resource, storage service resource, data or information resource, data repository, database
Keywords: Gene, genetic, amino acid, clinical, cystic fibrosis, mutation, phenotype, genotype-phenotype, genotype, dna sequence, mouse, sequence, genetic variation, polymorphism, translation, function, sequence variation, metadata standard, cftr2, FASEB list
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