CFTR c.3659del ;(p.T1220Kfs*8)

Variant ID: 7-117267766-AC-A

NM_000492.3(CFTR):c.3659del;(p.T1220Kfs*8)

This variant was identified in 11 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: 3659delC
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 3659delC; T1220fs
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: CFTR: 3659delC; Thr1220Lysfs*8; rs121908811
PubMed Link: 32971794
Variant Present in the following documents:
  • jpm-10-00140-s001.pdf
View BVdb publication page



Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

Pediatric Pulmonology
Zeiger, Andrew M AM; McGarry, Meghan E ME; Mak, Angel C Y ACY; Medina, Vivian V; Salazar, Sandra S; Eng, Celeste C; Liu, Amy K AK; Oh, Sam S SS; Nuckton, Thomas J TJ; Jain, Deepti D; Blackwell, Thomas W TW; Kang, Hyun Min HM; Abecasis, Goncalo G; Oñate, Leandra Cordero LC; Seibold, Max A MA; Burchard, Esteban G EG; Rodriguez-Santana, Jose J
Publication Date: 2020-02

Variant appearance in text: CFTR: 3659delC; Thr1220fs
PubMed Link: 31665830
Variant Present in the following documents:
  • Main text
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: 3659delC; Thr1220Lysfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening
Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK
Publication Date: 2016

Variant appearance in text: CFTR: 3659delC
PubMed Link: 28261631
Variant Present in the following documents:
  • Main text
  • nihms822513.pdf
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: 3659delC; Thr1220Lysfs*8
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: 3659delC
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
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: CFTR: 3659delC; Thr1220LysfsX8; rs121908811
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 1
View BVdb publication page



Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

The Journal Of Molecular Diagnostics : Jmd
Prach, Lisa L; Koepke, Ruth R; Kharrazi, Martin M; Keiles, Steven S; Salinas, Danieli B DB; Reyes, Maria Carmen MC; Pian, Mark M; Opsimos, Harry H; Otsuka, Kimberly N KN; Hardy, Karen Ann KA; Milla, Carlos E CE; Zirbes, Jacquelyn M JM; Chipps, Bradley B; O'Bra, Susan S; Saeed, Muhammad M MM; Sudhakar, Reddivalam R; Lehto, Susan S; Nielson, Dennis D; Shay, Gregory F GF; Seastrand, Mary M; Jhawar, Sanjay S; Nickerson, Bruce B; Landon, Christopher C; Thompson, Ann A; Nussbaum, Eliezer E; Chin, Terry T; Wojtczak, Henry H; ,
Publication Date: 2013-09

Variant appearance in text: CFTR: 3659delC
PubMed Link: 23810505
Variant Present in the following documents:
  • Main text
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: 3659delC
PubMed Link: 20616359
Variant Present in the following documents:
  • Main text
View BVdb publication page