CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Lung diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.040 GeneticVariation BEFREE The "mild" gene variant, p.Arg117His in cystic fibrosis (CF) results in highly variable phenotypes ranging from male infertility to severe lung disease. 30279124 2019
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.040 GeneticVariation BEFREE We present a case demonstrating a substantial therapeutic effect of ivacaftor in a CF patient with genotype F508del/R117H and advanced lung disease. 25698453 2015
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.040 GeneticVariation BEFREE Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease. 16266832 2006
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.040 GeneticVariation BEFREE The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. 11069835 2000