|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.
|
24440239 |
2014 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Ivacaftor in a G551D homozygote with cystic fibrosis.
|
24066763 |
2013 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Among these mutations, the CF-causing missense mutation G551D-CFTR (approx.
|
22768251 |
2012 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection.
|
20381036 |
2010 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes.
|
19734299 |
2009 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
|
15528182 |
2005 |
|
rs75527207
|
|
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 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
|
rs75527207
|
|
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 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients.
|
8605891 |
1996 |
|
rs75527207
|
|
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 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
The three major CF mutations in Northern Ireland are delta F508, G551D, and R117H with respective frequencies of 68.0%, 5.1%, and 4.1%.
|
8956039 |
1996 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.
|
7542778 |
1995 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Interaction between cystic fibrosis transmembrane conductance regulator and outwardly rectified chloride channels.
|
7493947 |
1995 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |