rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
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
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
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
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
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
×
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
UNIPROT
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
1695717
1990
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
G
0.900
CausalMutation
CLINVAR
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
23951356
2013
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
G
0.900
CausalMutation
CLINVAR
A mutation in the second nucleotide binding fold of the cystic fibrosis gene.
1998343
1991
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
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
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
7543567
1995
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
16822950
2007
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.900
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
21422883
2011
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
G
0.900
CausalMutation
CLINVAR
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
21520337
2011
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
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
19914443
2009
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
G
0.900
CausalMutation
CLINVAR
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
15371902
2005
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
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
UNIPROT
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
20675678
2010
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
G
0.900
CausalMutation
CLINVAR
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
22658665
2012
rs80034486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
G
0.900
CausalMutation
CLINVAR
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
23974870
2013
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