TERT c.2240del ;(p.V747Afs*20)

Variant ID: 5-1278802-GA-G

NM_198253.2(TERT):c.2240del;(p.V747Afs*20)

This variant was identified in 7 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: TERT: 2240del; Val747fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Molecular genetics of idiopathic pulmonary fibrosis.

Vavilovskii Zhurnal Genetiki I Selektsii
Mustafin, R N RN
Publication Date: 2022-05

Variant appearance in text: TERT: 2240delT
PubMed Link: 35795226
Variant Present in the following documents:
  • Main text
  • VJGB-26-2237.pdf
View BVdb publication page



Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine
Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ
Publication Date: 2019-08-16

Variant appearance in text: TERT: Val747AlafsX20
PubMed Link: 31426295
Variant Present in the following documents:
  • Main text
  • jcm-08-01232.pdf
View BVdb publication page



Diagnostic utility of telomere length testing in a hospital-based setting.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Alder, Jonathan K JK; Hanumanthu, Vidya Sagar VS; Strong, Margaret A MA; DeZern, Amy E AE; Stanley, Susan E SE; Takemoto, Clifford M CM; Danilova, Ludmila L; Applegate, Carolyn D CD; Bolton, Stephen G SG; Mohr, David W DW; Brodsky, Robert A RA; Casella, James F JF; Greider, Carol W CW; Jackson, J Brooks JB; Armanios, Mary M
Publication Date: 2018-03-06

Variant appearance in text: TERT: Val747Alafs*20
PubMed Link: 29463756
Variant Present in the following documents:
  • pnas.201720427SI.pdf
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: TERT: 2240delT; Val747Alafs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.

Plos One
Kumar, Akash A; Dougherty, Max M; Findlay, Gregory M GM; Geisheker, Madeleine M; Klein, Jason J; Lazar, John J; Machkovech, Heather H; Resnick, Jesse J; Resnick, Rebecca R; Salter, Alexander I AI; Talebi-Liasi, Faezeh F; Arakawa, Christopher C; Baudin, Jacob J; Bogaard, Andrew A; Salesky, Rebecca R; Zhou, Qian Q; Smith, Kelly K; Clark, John I JI; Shendure, Jay J; Horwitz, Marshall S MS
Publication Date: 2014

Variant appearance in text: TERT: 2240delT
PubMed Link: 25192356
Variant Present in the following documents:
  • Main text
  • pone.0106744.pdf
View BVdb publication page



Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tsakiri, Kalliopi D KD; Cronkhite, Jennifer T JT; Kuan, Phillip J PJ; Xing, Chao C; Raghu, Ganesh G; Weissler, Jonathan C JC; Rosenblatt, Randall L RL; Shay, Jerry W JW; Garcia, Christine Kim CK
Publication Date: 2007-05-01

Variant appearance in text: TERT: 2240delT
PubMed Link: 17460043
Variant Present in the following documents:
  • Main text
View BVdb publication page