Basic statistics:



The CFTR-France currently has 5597 individuals recorded, including:

Patients stats

Patients statistics and pathologies


Pathology Nb Details
Pending 58-
Fetal bowel anomalies 74-
CF 3218-
Asymptomatic compound heterozygote 181-
Pending (NBS) 247-
CFTR-RD 1805
  • 16  Aquagenic palmoplantar keratoderma
  • 204  Bronchiectasis
  • 1025  CBAVD
  • 37  CRS-NP
  • 225  Other
  • 298  Pancreatitis
Pending non-CF 14-

Variants classification stats

Variant class Number
Total 969
non disease-causing61
VUS427
disease-causing481

DNA Alterations

Protein Alterations