|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
|
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 |
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
|
19092437 |
2008 |
|
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 |
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
We detected a new [R117L; L997F] CFTR complex allele in the four subjects with the highest sweat test values and CF.
|
20706124 |
2010 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
In 2014, ivacaftor was approved in the United States as a treatment for CF subjects aged greater than 6 years old with a copy of R117H-CFTR.
|
25698453 |
2015 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
|
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 |
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 |
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 |
GeneticVariation
|
CLINVAR |
|
|
|
|
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 |
Heterogeneity in hereditary pancreatitis.
|
9557894 |
1998 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
|
16266832 |
2006 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The compound heterozygote cystic fibrosis (CF) mutation Phe508del with Arg117His-7T should not necessarily be considered benign in childhood.
|
18394117 |
2008 |
|
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
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
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 |
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 |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
One patient carried two CF mutations (deltaF508/R347H), and five were found to carry one CF mutation (four deltaF508; one R117H).
|
8659542 |
1996 |