Rs145449046

Cystic fibrosis; c.2374C>T, p.Arg792Ter, as well as c.2374C>G, p.Arg792Gly

named i5011543 by 23andMe Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens.

The phenotypic consequences of CFTR mutations.

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?