rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
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 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
|
7525450 |
1994 |
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
|
7529962 |
1995 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
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 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
|
8723693 |
1996 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
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 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
|
9554753 |
1998 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region.
|
11788090 |
2001 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Two children with mild CF symptoms had DeltaF508 and R117C.
|
15482777 |
2004 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
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 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |