Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516619
rs1057516619
0.710 GeneticVariation BEFREE As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. 26471113

2017

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE Consistent with reports that premature stop codon mutations (class I; e.g., G542X) can be read over by treatment with aminoglycoside antibiotics, exposure of CF cholangiocytes to gentamicin restored activation by cAMP of Cl(-) current and HCO3- secretion. 11786964

2002

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE For counseling purposes the two most frequent mutations in Argentine CF population: deltaF508 and G542X were screened in wives. 15239534

2004

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1. 1757966

1991

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE The present study reports the genetic analysis of a family with different clinical forms of CF and addresses the difficulty of CF diagnosis in an individual with mutant alleles G542X and R117H because of the variable phenotype associated with R117H mutation. 18078365

2008

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE Using a mouse model for cystic fibrosis (CF), we show that s.c. injection or oral administration of PTC124 to Cftr-/- mice expressing a human CFTR-G542X transgene suppressed the G542X nonsense mutation and restored a significant amount of human (h)CFTR protein and function. 18272502

2008

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model. 19136563

2009

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%). 19715466

2009

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE NB124 treatment rescued CFTR function in a CF mouse model expressing a human CFTR-G542X transgene; efficacy was superior to gentamicin and exhibited favorable pharmacokinetic properties, suggesting that in vitro results translated to clinical benefit in vivo. 24251786

2014

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. 29924856

2018

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. 7504691

1993

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE The G542X mutation was found on 5% (7/129) of CF chromosomes. 7509564

1994

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11, 17b, 19, 20 and 21 using the method of denaturing gradient gel electrophoresis (DGGE). 7544320

1995

dbSNP: rs113993959
rs113993959
0.800 GeneticVariation BEFREE Our current strategy for molecular diagnosis of CF in the Spanish population is based, as a first step, on direct analysis for the two most frequent mutations (delta F508 and G542X) and indirect analysis using the intragenic markers IVS8CA, IVS17BTA, and IVS17BCA. 8710774

1996

dbSNP: rs113993959
rs113993959
0.800 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: rs115545701
rs115545701
0.710 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762

2010

dbSNP: rs11971167
rs11971167
0.730 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762

2010

dbSNP: rs11971167
rs11971167
0.730 GeneticVariation BEFREE Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002). 25033378

2014

dbSNP: rs11971167
rs11971167
0.730 GeneticVariation BEFREE The p.[Arg74Trp;Asp1270Asn] and the p.Asp1270Asn have scarce functional effects, while p.[Arg74Trp;Val201Met;Asp1270Asn] caused mild CF in four of five subjects carrying a class I-II mutation <i>in trans</i>, or CFTR-related disorders (CFTR-RD) in three having <i>in trans</i> a class IV-V mutation. 27738188

2017

dbSNP: rs121908751
rs121908751
0.820 GeneticVariation BEFREE E92X abolishes correctly spliced CFTR mRNA and leads to severe cystic fibrosis. 7512993

1994

dbSNP: rs121908751
rs121908751
0.820 GeneticVariation BEFREE Haplotype 16-46-13 is strongly associated with CF mutations E92K and 3601-111G-->C. 7689896

1993

dbSNP: rs121908752
rs121908752
0.820 GeneticVariation BEFREE L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. 7545869

1995

dbSNP: rs121908752
rs121908752
0.820 GeneticVariation BEFREE We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). 8522333

1995

dbSNP: rs121908755
rs121908755
0.830 GeneticVariation BEFREE The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K. 1718974

1991

dbSNP: rs121908755
rs121908755
0.830 GeneticVariation BEFREE A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N. 17716958

2008