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: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529 1992
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 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
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. 12767731 2003
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Eleven CRS patients were found to have a CF mutation (DeltaF508, n = 9; G542X, n = 1; and N1303K, n = 1). 11025834 2000
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333 1995
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884 2012
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539 2010
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289 2014
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753 1998
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 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
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518 1993
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 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
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952 2001
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758 2015
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117 2010
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130 2014
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 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
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633 1996
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Options for pharmacological correction of CFTR-p.Phe508del (F508del) are being extensively studied but correction of other trafficking mutants that may also benefit from corrector treatment remains largely unknown.We studied correction of the folding mutants CFTR-p.Phe508del, -p.Ala455Glu (A455E) and -p.Asn1303Lys (N1303K) by VX-809 and 18 other correctors (C1-C18) using a functional CFTR assay in human intestinal CF organoids.Function of both CFTR-p.Phe508del and -p.Ala455Glu was enhanced by a variety of correctors but no residual or corrector-induced activity was associated with CFTR-p.Asn1303Lys. 27103391 2016
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054 1998
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K. 15357568 2004
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation. 25799511 2015
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352 2003
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177 2010