Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE We generated G551D CF mice transgenically expressing the human CFTR gene in two tissue compartments previously demonstrated to mediate a CFTR-dependent inflammatory response: lung epithelium and alveolar macrophages. 11978765

2002

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent. 19734299

2010

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE It has been suggested that a mutation (G551D) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may play a role in nasal polyp formation in patients without CF. 10392242

1999

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Mechanism of G551D-CFTR (cystic fibrosis transmembrane conductance regulator) potentiation by a high affinity ATP analog. 18167357

2008

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) is a common cause of cystic fibrosis (CF). 21441077

2011

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE She was found to have a mutation in the SPINK1 gene, IVS3+184T>A, and one cystic fibrosis-causing mutation (G551D) prompting full gene sequencing of the CFTR, revealing an additional duplication of exon 19. 21673536

2011

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The marked success of ivacaftor both in clinical trials and in post-licensing evaluation studies in treating patients with G551D and other gating mutations has greatly encouraged the ongoing development of similar therapies that can directly target the underlying cause of CF. 26091951

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. 21083385

2010

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator ivacaftor (Kalydeco®) improves clinical outcome in G551D cystic fibrosis (CF) patients. 28445004

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE In contrast, a CF-causing mutation that does not impair CFTR processing (G551D) had no effect on NBD1 dimerization. 12080183

2002

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. 22047557

2011

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Curcumin cross-linked two CF mutant channels (Delta F508 and G551D) as well as a variety of deletion constructs that lack the major cytoplasmic domains. 19740743

2009

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor (VX-770) is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that was approved in the United States for the treatment of cystic fibrosis (CF) in patients ≥ 6 years of age who have a G551D mutation; however, the most prevalent disease-causing CFTR mutation, F508del, causes a different functional defect. 22383668

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D leading to the approval of ivacaftor as a novel CF therapy [1]. 25698453

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE One drug, ivacaftor, was recently approved by the US Food and Drug Administration for the approximately 4% of patients with CF who have the G551D gating mutation. 22723294

2013

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected organs, e.g. airways, intestines and sweat glands is presently lacking. 21507732

2012

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed in the CF group (109 patients) studied in our laboratory. 7539342

1995

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE In summary, the 5T allele was not found in cis with CF-causing mutations besides R117H, but an elevated 5T allele frequency in variant CF patients suggests 5T may be associated with disease in some situations. 9259194

1997

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. 16266832

2006

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE In 2014, ivacaftor was approved in the United States as a treatment for CF subjects aged greater than 6 years old with a copy of R117H-CFTR. 25698453

2016

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia. 21976147

2016

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed. 9591500

1998

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Respiratory exacerbations in childhood associated with compound heterozygosity Phe508del/Arg117His-7T of the cystic fibrosis transmembrane regulator gene. 18394117

2008

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40. 26070913

2016