|
rs1396707015
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.
|
12820707 |
2003 |
|
rs142920240
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
M348K in the CFTR gene is not a mutation causing CF, but a rare polymorphism.
|
15614862 |
2004 |
|
rs144745159
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The co-translational rescue of ΔF508 NBD1 misfolding in CFTR by I539T advocates this domain as the most important drug target for cystic fibrosis.
|
21152102 |
2010 |
|
rs17140229
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Repetitive MAS were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00003) and cystic fibrosis transmembrane conductance receptor-rs17140229 in the pooled analysis (p = 0.00543).
|
23614351 |
2013 |
|
rs1800080
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Whereas all have been reported in the dbSNP database, only p.Ala334Thr, p.Val573Ile, and p.Thr663Ala in SCNN1A, p.Gly442Val in SCNN1B and p.Gly183Ser in SCNN1G were previously reported in ENaC genetic studies of CF or CF-like patients.
|
25900089 |
2016 |
|
rs1800100
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Overall, the results consistently show the contribution of p.Gly149Arg to the CF phenotype, and suggest that p.[Arg668Cys], p.[Gly576Ala;Arg668Cys], and p.[Asp443Tyr;Gly576Ala;Arg668Cys] are associated with CFTR-related disorders.
|
22678879 |
2012 |
|
rs186089140
|
|
Cystic Fibrosis
|
|
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 |
|
rs191456345
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Herein we have assessed the phenotype associated with the p.Arg258Gly (R258G) mutation, checking our cohorts of patients (CF and CFTR-RD) and control subjects (CF carriers, fertile males, and general population).
|
19810821 |
2009 |
|
rs200901072
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Moreover, three rare CFTR gene DNA polymorphisms (G576A, R668C, and 2736 A-->G), not deemed to be the cause of CF, were found in two patients, one of which was a compound heterozygote with R1066C.
|
7543317 |
1995 |
|
rs397508185
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus.
|
20179644 |
2010 |
|
rs397508188
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.
|
20052366 |
2010 |
|
rs397508198
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The c.[T(5); 1392G>T] complex allele contributes to the CF phenotype by affecting splicing and inducing a severe misprocessing defect.
|
25403292 |
2015 |
|
rs397508323
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we have investigated the consequence of two cystic fibrosis (CF) disease-causing mutations, E656X and 2108delA, on the function of a putative exonic splicing enhancer (ESE) in exon 13 of the CFTR gene.
|
12913074 |
2003 |
|
rs397508369
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Four patients (13.8%) were heterozygous for a CFTR mutation, including a new putative severe CF-causing mutation (N782K), and three mild defects (L997F, D1270N, and S1235R).
|
12127423 |
2002 |
|
rs397508527
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American origin.
|
10649505 |
2000 |
|
rs397508599
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel G1244R disease causing mutation, leading to a CF phenotype with pancreatic sufficiency but early onset of pulmonary involvement, was detected in the subject with an uncertain diagnosis.
|
16635477 |
2006 |
|
rs397508725
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.
|
12820707 |
2003 |
|
rs397508731
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ten patients were studied, seven had five pathogenic mutations without previous description in Brazil (Q1100P, Y109C, A107P, E1409K and K162E), one of which has not yet been reported in patients with CF (A107P).
|
30232781 |
2018 |
|
rs397508786
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
|
26911355 |
2016 |
|
rs75053309
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In our cohort, the Q359K/T360K mutation resulted in a severe CF phenotype, although with residual early CFTR function.
|
30033373 |
2018 |
|
rs758675549
|
|
Cystic Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables.
|
24593045 |
2014 |
|
rs141033578
|
|
Cystic Fibrosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Finally, compounds heterozygous for the c.[1210-34TG[12];1210-12T[5];2930C>T] and a class I-II mutation had mild CF or CFTR-RD (gating activity: 18.5-19.0%).
|
27738188 |
2017 |
|
rs141033578
|
|
Cystic Fibrosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation.
|
23361109 |
2013 |
|
rs1800076
|
|
Cystic Fibrosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the risk of ICP.
|
20977904 |
2011 |
|
rs1800076
|
|
Cystic Fibrosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
There are two other sequence variations in the CFTR gene; one of them (129G----C) is located 4 nucleotides upstream of the proposed translation initiation codon and, although present only on CF chromosomes, it is not clear whether it is a disease-causing mutation; the other (R75Q) is most likely a sequence variation within the coding region.
|
1710599 |
1991 |