CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cystic Fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE Only one of these mutations (R553X) is in the Caucasian CF screening panel. 27717243 2017
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE Only one of these mutations (R553X) was in the Caucasian CF screening panel. 28608624 2017
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE Only one of these mutations (R553X) is present in the Caucasian CFTR common mutation-screening panel; and none of the 11 mutations are common in Caucasian CF patients. 25580864 2015
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665 2012
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337 2011
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE An individual with the CFTR genotype R553X/F508del-R553Q showed the typical symptoms and electrophysiological anomalies of cystic fibrosis in the airways and intestine. 19176844 2009
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. 17475917 2007
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE The child with classic CF had DeltaF508 and R553X mutations. 15482777 2004
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. 7514569 1994
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. 7693946 1993
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. 7504691 1993
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE The missense mutation Arg553----Stop discovered in American Blacks is also present on cystic fibrosis chromosomes of Caucasian ancestry. 1376182 1992
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE A cystic fibrosis patient homozygous for the nonsense mutation R553X. 1682496 1991
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation BEFREE The R553X mutation was present on a further 9 out of 86 German non-delta F508 CF chromosomes linked with the XV2c-KM19-Mp6d9-J44-GATT haplotypes 2-2-2-1-1 and 1-1-2-1-2. 1715308 1991
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717 1990