CFTR c.2547C>G ;(p.Y849*)

Variant ID: 7-117235040-C-G

NM_000492.3(CFTR):c.2547C>G;(p.Y849*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: Y849X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: Y849X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.

Diagnostics (Basel, Switzerland)
Castaldo, Alice A; Cimbalo, Chiara C; Castaldo, Raimondo J RJ; D'Antonio, Marcella M; Scorza, Manuela M; Salvadori, Laura L; Sepe, Angela A; Raia, Valeria V; Tosco, Antonella A
Publication Date: 2020-08-08

Variant appearance in text: CFTR: Y849X
PubMed Link: 32784480
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00570.pdf
View BVdb publication page



Identification of molecular signatures of cystic fibrosis disease status with plasma-based functional genomics.

Physiological Genomics
Levy, Hara H; Jia, Shuang S; Pan, Amy A; Zhang, Xi X; Kaldunski, Mary M; Nugent, Melodee L ML; Reske, Melissa M; Feliciano, Rachel A RA; Quintero, Diana D; Renda, Michael M MM; Woods, Katherine J KJ; Murkowski, Kathy K; Johnson, Keven K; Verbsky, James J; Dasu, Trivikram T; Ideozu, Justin Eze JE; McColley, Susanna S; Quasney, Michael W MW; Dahmer, Mary K MK; Avner, Ellis E; Farrell, Philip M PM; Cannon, Carolyn L CL; Jacob, Howard H; Simpson, Pippa M PM; Hessner, Martin J MJ
Publication Date: 2019-01-01

Variant appearance in text: CFTR: Y849X
PubMed Link: 30540547
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.

The Embo Journal
Villella, Valeria R VR; Venerando, Andrea A; Cozza, Giorgio G; Esposito, Speranza S; Ferrari, Eleonora E; Monzani, Romina R; Spinella, Mara C MC; Oikonomou, Vasilis V; Renga, Giorgia G; Tosco, Antonella A; Rossin, Federica F; Guido, Stefano S; Silano, Marco M; Garaci, Enrico E; Chao, Yu-Kai YK; Grimm, Christian C; Luciani, Alessandro A; Romani, Luigina L; Piacentini, Mauro M; Raia, Valeria V; Kroemer, Guido G; Maiuri, Luigi L
Publication Date: 2019-01-15

Variant appearance in text: CFTR: Y849X
PubMed Link: 30498130
Variant Present in the following documents:
  • EMBJ-38-e100101-s001.pdf
View BVdb publication page



Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM
Publication Date: 2016-03

Variant appearance in text: CFTR: Y849X
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Journal Of Medical Case Reports
Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA
Publication Date: 2014-10-10

Variant appearance in text: CFTR: Y849X
PubMed Link: 25304080
Variant Present in the following documents:
  • 1752-1947-8-339.pdf
View BVdb publication page