rs75389940
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Cystic fibrosis mutation I1234V in a Qatari lady.
|
12630722 |
2003 |
rs397508725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.
|
12820707 |
2003 |
rs1396707015
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.
|
12820707 |
2003 |
rs397508288
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation.
|
15463898 |
2004 |
rs79660178
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.
|
15463906 |
2004 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation.
|
15997883 |
2005 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx.
|
25712891 |
2015 |
rs77010898
|
|
|
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 |
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 |
rs74597325
|
|
|
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 |
rs76649725
|
|
|
0.710 |
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 |
rs121909010
|
|
|
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 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
|
8605891 |
1996 |
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM.
|
8707298 |
1996 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe.
|
1372094 |
1992 |
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe.
|
1372094 |
1992 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
|
1380943 |
1992 |
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
|
1380943 |
1992 |
rs142920240
|
|
|
0.010 |
GeneticVariation |
BEFREE |
M348K in the CFTR gene is not a mutation causing CF, but a rare polymorphism.
|
15614862 |
2004 |
rs146521846
|
|
|
0.710 |
GeneticVariation |
BEFREE |
S1118F-CFTR shows impaired maturation and an individual with S1118F-CFTR paired with DeltaF508-CFTR exhibits atypical CF symptoms with intermediate sweat chloride level and meconium ileus despite documented pancreatic sufficiency.
|
19774621 |
2009 |
rs186089140
|
|
|
0.010 |
GeneticVariation |
BEFREE |
S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein.
|
29298718 |
2018 |
rs121908751
|
|
|
0.820 |
GeneticVariation |
BEFREE |
E92X abolishes correctly spliced CFTR mRNA and leads to severe cystic fibrosis.
|
7512993 |
1994 |
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
A455E is a common mutation causing cystic fibrosis in the Netherlands.
|
7539891 |
1995 |
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 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
BEFREE |
G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals.
|
7757078 |
1995 |