rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
9452073
1998
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K ) in patients with cystic fibrosis (CF ) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations.
24310628
2014
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
8723693
1996
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
20675678
2010
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K .
15357568
2004
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
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
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
12167682
2002
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject.
31776420
2019
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
Deletion of Phe<sup>508</sup> (ΔF508), the most prevalent mutation in CF , and other mutations in CFTR that impair its trafficking, such as N1303K , also led to quantitative and qualitative PTM changes that prevented the maturation of misfolded CFTR.
30600261
2019
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Standards and guidelines for CFTR mutation testing.
12394352
2003
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
1710600
1991
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
9554753
1998
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
7524909
1994
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
19914445
2009
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
7683628
1993
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
Eleven CRS patients were found to have a CF mutation (DeltaF508, n = 9; G542X, n = 1; and N1303K , n = 1).
11025834
2000
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
The CFTR genotype N1303K /IVS8-5T can cause very mild cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD).
17127107
2007
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
17761616
2007
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF ) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF .
28655774
2017
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
8522333
1995
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
BEFREE
The most common CF mutations, delta F508, G542X, and N1303K , showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations.
8844213
1996
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
22475884
2012
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
9452054
1998
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
12529365
2003
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
15789152
2005