Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908755
rs121908755
CFTR
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: rs121908757
rs121908757
CFTR
0.720 GeneticVariation BEFREE A standard OGTT was performed before and after 16weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation. 26547591

2016
dbSNP: rs121908757
rs121908757
CFTR
0.720 GeneticVariation BEFREE Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G). 10401194

1999
dbSNP: rs121908758
rs121908758
CFTR
0.830 GeneticVariation BEFREE Analysis of cystic fibrosis-associated missense mutations in the first nucleotide binding domain (NBD1), including A455E, S549R, Y563N, and P574H, revealed reduced levels of mature CFTR with elevated levels of carboxyl-terminal polypeptide fragments of 105 and 90 kDa. 10764788

2000
dbSNP: rs121908758
rs121908758
CFTR
0.830 GeneticVariation BEFREE This increased intrinsic activity of individual P574H CFTR-Cl- channels compensates for the lower number of P574H CFTR-Cl- channels reaching the cell surface, and probably explains the milder form of CF associated with the P574H mutation. 7540133

1995
dbSNP: rs121908758
rs121908758
CFTR
0.830 GeneticVariation BEFREE This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T. 1376016

1992
dbSNP: rs121908759
rs121908759
CFTR
0.710 GeneticVariation BEFREE We report molecular and clinical analyses in eleven unrelated patients with CF or CFTR-RD with compound heterozygosity for the p.Gly622Asp mutation. 25443471

2015
dbSNP: rs121908761
rs121908761
CFTR
0.710 GeneticVariation BEFREE Three patients (15.0%) had a cystic fibrosis (CF) mutation on one chromosome (deltaF508, I336K, Y1092X), which is known to cause phenotypical severe cystic fibrosis. 10950058

2000
dbSNP: rs121908803
rs121908803
CFTR
0.820 GeneticVariation BEFREE These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis. 8663008

1996
dbSNP: rs121908803
rs121908803
CFTR
0.820 GeneticVariation BEFREE Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D). 25363320

2015
dbSNP: rs121909005
rs121909005
CFTR
0.820 GeneticVariation BEFREE Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G). 10401194

1999
dbSNP: rs121909005
rs121909005
CFTR
0.820 GeneticVariation BEFREE A standard OGTT was performed before and after 16weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation. 26547591

2016
dbSNP: rs121909010
rs121909010
CFTR
0.720 GeneticVariation BEFREE Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. 1721624

1991
dbSNP: rs121909010
rs121909010
CFTR
0.720 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: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE The data provided here for mutation R334W demonstrate that this mutation is responsible for a less severe form of CF than delta F508. 7868128

1995
dbSNP: rs121909011
rs121909011
CFTR
0.850 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: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. 9039981

1997
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE R1162X and R334W, mutations identified in Spain and Italy, each occurred on 1.6% (2/129) of CF chromosomes. 7509564

1994
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. 8844211

1996
dbSNP: rs121909019
rs121909019
CFTR
0.810 GeneticVariation BEFREE Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. 8682497

1996
dbSNP: rs121909034
rs121909034
CFTR
0.710 GeneticVariation BEFREE In order to further elucidate the contribution of complex alleles to the wide phenotypic variability of cystic fibrosis (CF), we investigated the structure-function relationships of a severe CF-associated complex allele [p.S912L;p.G1244V]. 15744523

2005
dbSNP: rs121909044
rs121909044
CFTR
0.710 GeneticVariation BEFREE An individual with the CFTR genotype R553X/F508del-R553Q showed the typical symptoms and electrophysiological anomalies of cystic fibrosis in the airways and intestine. 19176844

2009
dbSNP: rs121909047
rs121909047
CFTR
0.810 GeneticVariation BEFREE As it is the case for F508del-CFTR (the most common CF mutant), low temperature treatment partially rescues a functional A561E-CFTR channel, suggesting that substitution of glutamic acid for alanine at position 561 does not completely abolish CFTR function. 14623323

2003
dbSNP: rs1396707015
rs1396707015
CFTR
0.010 GeneticVariation BEFREE Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508. 12820707

2003
dbSNP: rs141033578
rs141033578
CFTR
0.020 GeneticVariation BEFREE Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation. 23361109

2013