|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.
|
11737931 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.
|
7599637 |
1995 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Adenosine and its nucleotides activate wild-type and R117H CFTR through an A2B receptor-coupled pathway.
|
9950763 |
1999 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Because PPi stimulated wild-type channels, we tested its effect on CFTR containing the cystic fibrosis mutations: delta F508, R117H, and G551S.PPi stimulated all three.
|
7544788 |
1995 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
CFTR gene variant for patients with congenital absence of vas deferens.
|
7573058 |
1995 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
|
19092437 |
2008 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
|
9272157 |
1997 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
|
12767731 |
2003 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.
|
8698344 |
1996 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
|
9259197 |
1997 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Heterogeneity in hereditary pancreatitis.
|
9557894 |
1998 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
In summary, the 5T allele was not found in cis with CF-causing mutations besides R117H, but an elevated 5T allele frequency in variant CF patients suggests 5T may be associated with disease in some situations.
|
9259194 |
1997 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H.
|
10103316 |
1999 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.
|
11491164 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
|
7692051 |
1993 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular basis of hereditary pancreatitis.
|
10909845 |
2000 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.
|
7680769 |
1993 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Phosphatase inhibitors activate normal and defective CFTR chloride channels.
|
7522329 |
1994 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
|
11168024 |
2001 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice.
|
15246977 |
2004 |