Basic statistics:



The CFTR-France currently has 5572 individuals recorded, including:

Patients stats

Patients statistics and pathologies


Pathology Nb Details
Asymptomatic compound heterozygote 179-
Pending 58-
Pending non-CF 13-
CF 3215-
Fetal bowel anomalies 74-
Pending (NBS) 245-
CFTR-RD 1788
  • 16  Aquagenic palmoplantar keratoderma
  • 201  Bronchiectasis
  • 1017  CBAVD
  • 37  CRS-NP
  • 223  Other
  • 294  Pancreatitis

Variants classification stats

Variant class Number
Total 962
disease-causing481
non disease-causing61
VUS420

DNA Alterations

Protein Alterations