rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
1284529
1992
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
7524909
1994
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
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
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
8723693
1996
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
16822950
2007
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
21422883
2011
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
25431289
2014
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
19914445
2009
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
9452073
1998
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
20675678
2010
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Standards and guidelines for CFTR mutation testing.
12394352
2003
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
22475884
2012
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
8829633
1996
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
20605539
2010
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
7543567
1995
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
19914443
2009
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
G
0.800
CausalMutation
CLINVAR
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
17761616
2007
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
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
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
12529365
2003
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
20150177
2010
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
8406518
1993
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
GeneticVariation
UNIPROT
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
12167682
2002
rs76371115
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.800
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