Basic statistics:



The CFTR-France currently has 5735 individuals recorded, including:

Patients stats

Patients statistics and pathologies


Pathology Nb Details
Pending (NBS) 270-
CF 3298-
CFTR-RD 1838
  • 16  Aquagenic palmoplantar keratoderma
  • 209  Bronchiectasis
  • 1028  CBAVD
  • 41  CRS-NP
  • 237  Other
  • 307  Pancreatitis
Asymptomatic compound heterozygote 182-
Pending non-CF 15-
Fetal bowel anomalies 74-
Pending 58-

Variants classification stats

Variant class Number
Total 989
disease-causing499
VUS427
non disease-causing63

DNA Alterations

Protein Alterations