CFTR - Gene browser

CFTR

CF transmembrane conductance regulator

HCNC Approved Symbol: CFTR (HGNC:1884)
Genomic Coordinates: 7:117,480,025 - 117,668,665 (7q31.2)
Synonyms: MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP, CF, ABCC7
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

34Patients

In total, 34 patients were diagnosed with a variant in the CFTR gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

034
Patient count

Bronchiectasis: 8 (23.5%)
Patient Count: 8 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
8 (23.5%)
Failure to thrive: 5 (14.7%)
Patient Count: 5 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.7%)
Pneumonia: 5 (14.7%)
Patient Count: 5 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.7%)
Recurrent chest infections: 4 (11.8%)
Patient Count: 4 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.8%)
Recurrent pneumonia: 3 (8.8%)
Patient Count: 3 (8.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (8.8%)