|
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
|
T |
0.800 |
CausalMutation
|
CLINVAR |
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
|
24586523 |
2014 |
|
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
|
21783433 |
2011 |
|
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
|
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
|
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 |
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
|
20932301 |
2010 |
|
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
|
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Two children with mild CF symptoms had DeltaF508 and R117C.
|
15482777 |
2004 |
|
rs77834169
|
|
Cystic Fibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of positive charges situated at the outer mouth of the CFTR chloride channel pore.
|
18449561 |
2008 |
|
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
|
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
|
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 |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
|
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 |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
|
rs77834169
|
|
Cystic Fibrosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
|
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 |
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 |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |