CFTR-France Variants List History
Please click below for a file containing the list of
CFTR-France variants and their classification.
In the
most recent file (8 october 2021), a total of 985 variants are reported in
CFTR-France.
- 347 variants CF-causing: when in trans with another CF-causing mutation, will result in CF
- 43 variants CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-RD such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011
- 36 variants of varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD
- 46 variants disease causing (CF or CFTR-RD): cause a phenotype but as they were never found in trans with a CF-causing mutation, we can't associate them with CF or CFTR-RD
- 62 variants non disease-causing
- 446 variants of unknown significance
Versions:
List of all CFTR-France variants (08/10/2021)
List of all CFTR-France variants (19/02/2021)
List of all CFTR-France variants (01/10/2020)
List of all CFTR-France variants (09/09/2019)
List of all CFTR-France variants (03/07/2019)
Citing CFTR-France
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276.
PMID: 28603918
