Basic statistics:



The CFTR-France currently has 5732 individuals recorded, including:

Patients stats

Patients statistics and pathologies


Pathology Nb Details
CFTR-RD 1837
  • 16  Aquagenic palmoplantar keratoderma
  • 208  Bronchiectasis
  • 1028  CBAVD
  • 41  CRS-NP
  • 237  Other
  • 307  Pancreatitis
Pending non-CF 15-
Asymptomatic compound heterozygote 182-
Pending (NBS) 273-
CF 3293-
Fetal bowel anomalies 74-
Pending 58-

Variants classification stats

Variant class Number
Total 988
disease-causing493
non disease-causing61
VUS434

DNA Alterations

Protein Alterations