CFTR c.2128A>T ;(p.K710*)

Variant ID: 7-117232349-A-T

NM_000492.3(CFTR):c.2128A>T;(p.K710*)

This variant was identified in 31 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: 2128A>T; Lys710Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Orphanet Journal Of Rare Diseases
Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA
Publication Date: 2022-06-13

Variant appearance in text: CFTR: K710X
PubMed Link: 35698092
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2373.pdf
View BVdb publication page



Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 2128A>T; K710X
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
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: K710X
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: K710X
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: rs75115087
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation
Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S
Publication Date: 2021-09

Variant appearance in text: CFTR: 2128A>T; Lys710*
PubMed Link: 34196078
Variant Present in the following documents:
  • HUMU-42-1165-s002.xlsx, sheet 1
View BVdb publication page



DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status.

Nutrients
Mędza, Aleksandra A; Kaźmierska, Katarzyna K; Wielgomas, Bartosz B; Konieczna, Lucyna L; Olędzka, Ilona I; Szlagatys-Sidorkiewicz, Agnieszka A; Sznurkowska, Katarzyna K
Publication Date: 2021-04-21

Variant appearance in text: CFTR: K710X
PubMed Link: 33919435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening
Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H
Publication Date: 2020-06

Variant appearance in text: CFTR: K710X
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 2128A>T
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
View BVdb publication page



.

Emc. Pediatria
Noël, S S; Sermet-Gaudelus, I I
Publication Date: 2020-03

Variant appearance in text: CFTR: 2128A>T; K710X
PubMed Link: 32288518
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Phosphorylation-dependent modulation of CFTR macromolecular signalling complex activity by cigarette smoke condensate in airway epithelia.

Scientific Reports
Schnúr, Andrea A; Premchandar, Aiswarya A; Bagdany, Miklos M; Lukacs, Gergely L GL
Publication Date: 2019-09-03

Variant appearance in text: CFTR: K710X
PubMed Link: 31481727
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_48971.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: CFTR: K710X; rs75115087
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Journal Of Reproduction & Infertility
Karimi, Nasibeh N; Alibakhshi, Reza R; Almasi, Shekoufeh S
Publication Date: 2018

Variant appearance in text: CFTR: 2128A>T; K710X
PubMed Link: 29850441
Variant Present in the following documents:
  • Main text
  • JRI-19-3.pdf
View BVdb publication page



Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research
Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2018-01

Variant appearance in text: CFTR: Lys710*
PubMed Link: 29497617
Variant Present in the following documents:
  • Main text
  • 00080-2017_supp.pdf
  • 00080-2017.pdf
View BVdb publication page



Structural abnormalities in islets from very young children with cystic fibrosis may contribute to cystic fibrosis-related diabetes.

Scientific Reports
Bogdani, Marika M; Blackman, Scott M SM; Ridaura, Cecilia C; Bellocq, Jean-Pierre JP; Powers, Alvin C AC; Aguilar-Bryan, Lydia L
Publication Date: 2017-12-08

Variant appearance in text: CFTR: K710X
PubMed Link: 29222447
Variant Present in the following documents:
  • 41598_2017_17404_MOESM1_ESM.pdf
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: CFTR: 2128A>T; Lys710Ter; rs75115087
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CFTR: 2128A>T; Lys710Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Emergence of cfr-Mediated Linezolid Resistance in a Methicillin-Resistant Staphylococcus aureus Epidemic Clone Isolated from Patients with Cystic Fibrosis.

Antimicrobial Agents And Chemotherapy
de Dios Caballero, Juan J; Pastor, María Dolores MD; Vindel, Ana A; Máiz, Luis L; Yagüe, Genoveva G; Salvador, Carme C; Cobo, Marta M; Morosini, María-Isabel MI; del Campo, Rosa R; Cantón, Rafael R; ,
Publication Date: 2015-12-14

Variant appearance in text: CFTR: K710X
PubMed Link: 26666940
Variant Present in the following documents:
  • Main text
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: 2128A>T; Lys710*
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.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: 2128A>T; K710X
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.

Molecular And Cellular Biology
Lee, Seakwoo S; Henderson, Mark J MJ; Schiffhauer, Eric E; Despanie, Jordan J; Henry, Katherine K; Kang, Po Wei PW; Walker, Douglas D; McClure, Michelle L ML; Wilson, Landon L; Sorscher, Eric J EJ; Zeitlin, Pamela L PL
Publication Date: 2014-07

Variant appearance in text: CFTR: K710X
PubMed Link: 24777605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Respiratory Research
Raju, S Vamsee SV; Tate, Jody H JH; Peacock, Sandra K G SK; Fang, Ping P; Oster, Robert A RA; Dransfield, Mark T MT; Rowe, Steven M SM
Publication Date: 2014-02-11

Variant appearance in text: CFTR: K710X
PubMed Link: 24517344
Variant Present in the following documents:
  • Main text
  • 1465-9921-15-18.pdf
View BVdb publication page



Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
Publication Date: 2013-10

Variant appearance in text: rs75115087
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 1
  • NIHMS512446-supplement-12.xlsx, sheet 2
View BVdb publication page



An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS
Publication Date: 2013-03

Variant appearance in text: CFTR: K710X
PubMed Link: 22975760
Variant Present in the following documents:
  • gim2012114x1.pdf
View BVdb publication page



Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

European Journal Of Human Genetics : Ejhg
Sobczyńska-Tomaszewska, Agnieszka A; Ołtarzewski, Mariusz M; Czerska, Kamila K; Wertheim-Tysarowska, Katarzyna K; Sands, Dorota D; Walkowiak, Jarosław J; Bal, Jerzy J; Mazurczak, Tadeusz T; ,
Publication Date: 2013-04

Variant appearance in text: CFTR: K710X
PubMed Link: 22892530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maintenance of nutritional status in patients with cystic fibrosis: new and emerging therapies.

Drug Design, Development And Therapy
Kalnins, Daina D; Wilschanski, Michael M
Publication Date: 2012

Variant appearance in text: CFTR: K710X
PubMed Link: 22787388
Variant Present in the following documents:
  • Main text
  • dddt-6-151.pdf
View BVdb publication page



The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd
Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A
Publication Date: 2010-09

Variant appearance in text: CFTR: K710X
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Human Mutation
Krasnov, Kristina V KV; Tzetis, Maria M; Cheng, Jie J; Guggino, William B WB; Cutting, Garry R GR
Publication Date: 2008-11

Variant appearance in text: CFTR: 2128A>T; K710X
PubMed Link: 18951463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS
Publication Date: 2008-05

Variant appearance in text: CFTR: K710X
PubMed Link: 18456578
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis.

Respiratory Research
Kraemer, Richard R; Baldwin, David N DN; Ammann, Roland A RA; Frey, Urs U; Gallati, Sabina S
Publication Date: 2006-11-30

Variant appearance in text: CFTR: K710X
PubMed Link: 17137500
Variant Present in the following documents:
  • Main text
  • 1465-9921-7-138.pdf
View BVdb publication page



Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08

Variant appearance in text: CFTR: K710X
PubMed Link: 16049310
Variant Present in the following documents:
  • Main text
View BVdb publication page