|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
|
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 |
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
|
1998343 |
1991 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
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 |
|
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
|
BEFREE |
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 |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe.
|
1372094 |
1992 |
|
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
|
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
|
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 |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
|
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
|
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 |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
|
8956039 |
1996 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Three mutations, delta F508 (37.5%), W1282X (15.6%), and N1303K (9.4%) accounted for 62.5% of CF alleles.
|
9254864 |
1997 |
|
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
|
|
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
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
|
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 cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3,849 + 10kbC --> T. Eight novel mutations were identified.
|
10834512 |
2000 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |