|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
|
8723693 |
1996 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
|
8956039 |
1996 |
|
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Relatively high prevalence of the CFTR mutations, G85E and 1154insTC.
|
7550243 |
1995 |
|
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
CFTR gene variant for patients with congenital absence of vas deferens.
|
7573058 |
1995 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
|
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.
|
7539080 |
1995 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
|
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
|
7680378 |
1993 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
|
7683628 |
1993 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
|
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
The spectrum of CFTR mutations in south-west German cystic fibrosis patients.
|
1283148 |
1992 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K.
|
1718974 |
1991 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
|
1710600 |
1991 |
|
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
|
2236053 |
1990 |
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
|
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
|
rs121908755
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
|
|
|