CFTR

Respiratory System · Mucociliary Clearance & Airway Cilia

Does one CFTR finding necessarily mean cystic fibrosis?

CFTR makes a chloride channel that helps regulate water movement in mucus-producing and other tissues. Diagnosis depends on the exact variants, their combination, and clinical evidence, so an isolated finding is not enough.

Common Gene Name: CF transmembrane conductance regulator
NCBI Gene ID: 1080
Chromosome: 7

Clinical Evidence Status

Established disease relationshipTumor or drug-label biomarker context

These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.

Answer Sources

Explore supporting evidence (8 records)

Condition or drug	Evidence	Grade / status	Context	Source
cystic fibrosis	ClinGen gene-disease validity	Definitive	Autosomal recessive	View source 2022-06-01
Congenital bilateral absence of the vas deferens	MedlinePlus related condition	Association type varies; no grade assigned here		View source 2008-01
Hereditary pancreatitis	MedlinePlus related condition	Association type varies; no grade assigned here		View source 2008-01
Elexacaftor, Ivacaftor, and Tezacaftor	FDA labeling biomarker	Label mentions biomarker; actionability not inferred	Pulmonary	View source
Ivacaftor	FDA labeling biomarker	Label mentions biomarker; actionability not inferred	Pulmonary	View source
Ivacaftor and Lumacaftor	FDA labeling biomarker	Label mentions biomarker; actionability not inferred	Pulmonary	View source
Ivacaftor and Tezacaftor	FDA labeling biomarker	Label mentions biomarker; actionability not inferred	Pulmonary	View source
Deutivacaftor, Tezacaftor, and Vanzacaftor	FDA labeling biomarker	Label mentions biomarker; actionability not inferred	Pulmonary	View source

Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.

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