|
rs78655421
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
|
24440181 |
2014 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
BEFREE |
A total of 60 consecutive infertile males with a diagnosis of CAVD were subjected to CFTR gene analysis which revealed 13 different CFTR gene mutations and 1 intronic variant that led to aberrant splicing. p.Phe508del (n = 16) and p.Arg117His (n = 4) were among the most common severe forms of CFTR mutations identified.
|
24958810 |
2014 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up.
|
23378603 |
2013 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
BEFREE |
In the idiopathic azoospermic patients, the p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H mutations and those detected in our CBAVD cases were screened.
|
22103471 |
2012 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Moreover, the common heterozygous F508del/5T and F508del/R117H were observed in 17 and 4% of CBAVD cases respectively, and the allele frequency in CBAVD was 17% for F508del, 25% for 5T and 3% for R117H.
|
22081250 |
2012 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
BEFREE |
To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia.
|
21976147 |
2011 |
|
rs78655421
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.
|
19092437 |
2008 |
|
rs78655421
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
|
rs78655421
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
|
rs78655421
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.
|
11491164 |
2001 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Another source of genetic variation, responsible for mild cystic fibrosis (CF) and/or congenital bilateral absence of the vas deferens, is the mutation R117H, located in exon 4 of CFTR.
|
11070158 |
2000 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
BEFREE |
DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD.
|
11101688 |
2000 |
|
rs78655421
|
|
|
0.880 |
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
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
|
rs78655421
|
|
|
0.880 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs151048781
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
|
23276700 |
2013 |
|
rs151048781
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
|
rs151048781
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.
|
20100616 |
2010 |
|
rs151048781
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.
|
20021716 |
2009 |
|
rs191456345
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here.
|
19810821 |
2009 |
|
rs121908752
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
|
17329263 |
2007 |
|
rs121908759
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
|
17329263 |
2007 |
|
rs121909011
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
|
17329263 |
2007 |
|
rs145449046
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
|
17329263 |
2007 |
|
rs151048781
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.
|
17975025 |
2007 |