Mutation Details for c.1709T>A

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.1709T>A 
Protein Name p.Leu570X 
Exon or Intron  
Other Details  
Contributors and Institutes
Didem Dayangaç-Erden - Hacettepe University Faculty of Medicine, Department of Medical Biology, Ankara Turkey
Merve Atalay - Hacettepe University Faculty of Medicine, Department of Medical Biology, Ankara Turkey
Nagehan Emiralioğlu - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Mina Hızal - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Sanem Polat - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Uğur Özçelik - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Ebru Yalçın - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Deniz Doğru - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Engin Yılmaz - Hacettepe University Faculty of Medicine, Department of Medical Biology, Ankara Turkey
Nural Kiper - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
  
Submitted Phenotype Details She has been diagnosed at 4 months with failure to thrive. She carries F508del mutation on the other allel. She has pancreatic insufficiency and taking pancreatic enzyme replasman treatment. Pseudobartter syndrome history was positive. She has lung involvement with bronchiectasis. Lung function test: FEV1: %75 FVC: %79 FEV1/FVC: 81 FEF25-75: %68 (Sweat test Cl>60) 
Reference Dayangaç-Erden, D., Atalay, M., Emiralioğlu, N., Hızal, M., Polat, S., Özçelik, U., ... & Kiper, N. (2020). Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience. Clinica Chimica Acta, 510, 252-259. 

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The Database was last updated at Apr 25, 2011