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: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.810 CausalMutation CLINVAR Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. 1379210 1992
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633 1996
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. 12529365 2003
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678 2010
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883 2011
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529 1992
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717 1990
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539 2010
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518 1993
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152 2005
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693 1996
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073 1998
dbSNP: rs78194216
rs78194216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909 1994