Cystic Fibrosis The Journal of Molecular Diagnostics

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Cystic Fibrosis The Journal of Molecular Diagnostics Marie-Luise Brennan, Iris Schrijver The Journal of Molecular Diagnostics Volume 18, Issue 1, Pages 3-14 (January 2016) DOI: 10.1016/j.jmoldx.2015.06.010 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Types of cystic fibrosis transmembrane conductance regulator (CFTR) variants. Summary of 1983 CFTR variants by category in the CF mutation database (http://www.genet.sickkids.on.ca/app), as reported on October 31, 2014. Further studies by Sosnay et al48 have classified 1044 variants from 39,696 individuals with CF. Allele frequency, functional testing, and parental transmission were used to characterize variants as consistent with causing disease, non-disease causing, or indeterminate in effect. Number of variants in CF mutation database: 1983; number of variants in CFTR2 database: 1044. Allele frequency >0.01%: 159; +Met clinical and functional criteria: 127; +Neutral effect: 12; +Indeterminate effect: 20. The Journal of Molecular Diagnostics 2016 18, 3-14DOI: (10.1016/j.jmoldx.2015.06.010) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions