CFTR c.3304A>T ;(p.R1102*)

Variant ID: 7-117251799-A-T

NM_000492.3(CFTR):c.3304A>T;(p.R1102*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 3304A>T; Arg1102Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: R1102X
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: R1102X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05

Variant appearance in text: rs397508536
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Determinants of Serum Glycerophospholipid Fatty Acids in Cystic Fibrosis.

International Journal Of Molecular Sciences
Drzymała-Czyż, Sławomira S; Krzyżanowska, Patrycja P; Koletzko, Berthold B; Nowak, Jan J; Miśkiewicz-Chotnicka, Anna A; Moczko, Jerzy A JA; Lisowska, Aleksandra A; Walkowiak, Jarosław J
Publication Date: 2017-01-18

Variant appearance in text: CFTR: R1102X
PubMed Link: 28106773
Variant Present in the following documents:
  • Main text
  • ijms-18-00185.pdf
View BVdb publication page



Exogenous and endogenous determinants of vitamin K status in cystic fibrosis.

Scientific Reports
Krzyżanowska, Patrycja P; Pogorzelski, Andrzej A; Skorupa, Wojciech W; Moczko, Jerzy J; Grebowiec, Philip P; Walkowiak, Jarosław J
Publication Date: 2015-07-10

Variant appearance in text: CFTR: R1102X
PubMed Link: 26160248
Variant Present in the following documents:
  • Main text
  • srep12000.pdf
View BVdb publication page