|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
|
rs80034486
|
|
Cystic Fibrosis
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
|
rs80034486
|
|
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
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K.
|
15357568 |
2004 |
|
rs80034486
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
|
rs80034486
|
|
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
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
|
rs80034486
|
|
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
|
|
Cystic Fibrosis
|
G |
0.900 |
CausalMutation
|
CLINVAR |
N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
|
1380943 |
1992 |
|
rs80034486
|
|
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
|
|
Cystic Fibrosis
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
|
23891399 |
2014 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
|
rs80034486
|
|
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
|
|
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
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
|
rs80034486
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
|
rs80034486
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |