||common in clinvar
||cystic fibrosis carrier (most likely)
aka c.14C>T, p.Pro5Leu and P5L
In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 22.4% of wild-type CFTR activity.[PMID 29805046]
[PMID 18306] Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients with hematological diseases.
[PMID 17235394] Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.
[PMID 17331079] Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
[PMID 17594397] Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.
[PMID 19897426] A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
[PMID 20351101] Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.