CFTR c.591G>A ;(p.L197=)

Variant ID: 7-117175313-G-A

NM_000492.3(CFTR):c.591G>A;(p.L197=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports
Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G
Publication Date: 2016-08-22

Variant appearance in text: CFTR: L197L
PubMed Link: 27545006
Variant Present in the following documents:
  • srep31628-s2.xls, sheet 2
View BVdb publication page



Could a defective epithelial sodium channel lead to bronchiectasis.

Respiratory Research
Fajac, Isabelle I; Viel, Marion M; Sublemontier, Sébastien S; Hubert, Dominique D; Bienvenu, Thierry T
Publication Date: 2008-05-28

Variant appearance in text: CFTR: 591G>A
PubMed Link: 18507830
Variant Present in the following documents:
  • Main text
  • 1465-9921-9-46.pdf
View BVdb publication page