|| common in clinvar
|| carrier of a cystic fibrosis allele
Cystic fibrosis; c.2052_2053insA, p.Gln685Thrfs
named i5011485 by 23andMe
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 1733107] Cauliflower mosaic virus: a 420 subunit (T = 7), multilayer structure.
[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
[PMID 9482579] Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).
[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
[PMID 17378246] Rare genotype del2,3/2184insA in a cystic fibrosis patient.
[PMID 21296036] Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.