|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The spectrum of CFTR mutations in south-west German cystic fibrosis patients.
|
1283148 |
1992 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
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 |
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 |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
|
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
|
|
0.900 |
GeneticVariation
|
BEFREE |
Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations.
|
7532150 |
1995 |
|
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 |
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 |
The Irish cystic fibrosis database.
|
8825927 |
1995 |
|
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
|
|
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 |
|
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 |
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
|
BEFREE |
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 |
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
|
9272157 |
1997 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed.
|
9591500 |
1998 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Heterogeneity in hereditary pancreatitis.
|
9557894 |
1998 |
|
rs78655421
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.
|
9550361 |
1998 |
|
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
|
|
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 |
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 |