rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
11280952
2001
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
9452054
1998
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
A
0.820
CausalMutation
CLINVAR
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
12815607
2003
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
25431289
2014
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Standards and guidelines for CFTR mutation testing.
12394352
2003
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
A
0.820
CausalMutation
CLINVAR
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
23974870
2013
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
16822950
2007
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
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
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
9452073
1998
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
20008117
2010
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
21422883
2011
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
15528182
2005
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
17761616
2007
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
8829633
1996
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
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
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
C
0.820
CausalMutation
CLINVAR
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
23974870
2013
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
9554753
1998
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
19914445
2009
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
A
0.820
CausalMutation
CLINVAR
Detection of over 98% cystic fibrosis mutations in a Celtic population.
1284639
1992
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
A
0.820
CausalMutation
CLINVAR
Distinct sputum cytokine profiles in cystic fibrosis and other chronic inflammatory airway disease.
10515411
1999
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
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
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
12167682
2002
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
7543567
1995
rs80055610
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.820
GeneticVariation
UNIPROT
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
20150177
2010