CFTR c.1545T>G ;(p.Y515*)

Variant ID: 7-117199670-T-G

NM_000492.3(CFTR):c.1545T>G;(p.Y515*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal
Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM
Publication Date: 2022-08

Variant appearance in text: CFTR: Tyr515X
PubMed Link: 35086832
Variant Present in the following documents:
  • ERJ-00508-2021.Supplement.pdf
View BVdb publication page



The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal
Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A
Publication Date: 2021-11

Variant appearance in text: CFTR: Y515X
PubMed Link: 34860163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran.

Iranian Journal Of Basic Medical Sciences
Mehdizadeh Hakkak, Atieh A; Keramatipour, Mohammad M; Talebi, Saeid S; Brook, Azam A; Tavakol Afshari, Jalil J; Raazi, Amin A; Kianifar, Hamid Reza HR
Publication Date: 2013-08

Variant appearance in text: CFTR: Tyr515X
PubMed Link: 24106596
Variant Present in the following documents:
  • Main text
  • ijbms-16-917.pdf
View BVdb publication page