Variant: rs191456345 

    present in Gene: CFTR
    present in Chromosome: 7
    Position on Chromosome: 117536576
    Alleles of this Variant: A/G

rs191456345 in CFTR gene and Congenital bilateral aplasia of vas deferens PMID 17413420 2007 Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.

PMID 19810821 2009 To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here.

PMID 9305991 1997 Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

PMID 10875853 2000 Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 16196493 2006 Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.

rs191456345 in CFTR gene and VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF PMID 28785019 2017 Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.

PMID 17413420 2007 Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.

PMID 23687349 2013 Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

PMID 9305991 1997 Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

PMID 9239681 1996 Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.

PMID 22483971 2012 Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.

PMID 28830496 2017 What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

PMID 7739684 1995 Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

PMID 16196493 2006 Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 23104983 2013 Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.

PMID 15097853 2004 Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?

PMID 25033378 2014 Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

PMID 19810821 2009 The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.

PMID 19812525 2010 Independent contribution of common CFTR variants to chronic pancreatitis.

PMID 10376575 1999 Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.

PMID 25735457 2016 Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.