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: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693 1996
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.830 CausalMutation CLINVAR A mutation in CFTR produces different phenotypes depending on chromosomal background. 7506096 1993
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.830 CausalMutation CLINVAR Relatively high prevalence of the CFTR mutations, G85E and 1154insTC. 7550243 1995
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation BEFREE The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K. 1718974 1991
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.830 CausalMutation CLINVAR CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. 15371903 2005
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952 2001
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883 2011
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 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: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.830 CausalMutation CLINVAR CFTR gene variant for patients with congenital absence of vas deferens. 7573058 1995
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753 1998
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.830 CausalMutation CLINVAR The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. 26708955 2016
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633 1996
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073 1998
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.830 CausalMutation CLINVAR Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. 2236053 1990
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 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
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717 1990
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177 2010
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130 2014
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529 1992
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.830 CausalMutation CLINVAR
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054 1998
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909 1994
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation BEFREE Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. 7680378 1993
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 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: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.830 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009