rs121908759
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
7529962
1995
rs121908759
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
9067761
1997
rs121908759
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
7539342
1995
rs121908759
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
9736778
1998
rs121908759
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
A
0.800
CausalMutation
CLINVAR
rs121908759
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
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
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
A
0.800
GeneticVariation
CLINVAR
rs121909011
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
9736778
1998
rs121909011
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
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
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
T
0.800
CausalMutation
CLINVAR
rs121909011
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
10651488
1998
rs121909011
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
7539342
1995
rs121909011
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
9067761
1997
rs121909011
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
7529962
1995
rs145449046
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
9736778
1998
rs145449046
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
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
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
9067761
1997
rs145449046
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
7539342
1995
rs145449046
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
T
0.800
CausalMutation
CLINVAR
rs145449046
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
7529962
1995
rs145449046
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
10651488
1998
rs151048781
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
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
rs151048781
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
0.800
GeneticVariation
UNIPROT
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
9736778
1998
rs151048781
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
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
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
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