TERT c.2058C>G ;(p.I686M)

Variant ID: 5-1279478-G-C

NM_198253.2(TERT):c.2058C>G;(p.I686M)

This variant was identified in 2 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: 2058C>G; Ile686Met
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Cancer spectrum and outcomes in the Mendelian short telomere syndromes.

Blood
Schratz, Kristen E KE; Haley, Lisa L; Danoff, Sonye K SK; Blackford, Amanda L AL; DeZern, Amy E AE; Gocke, Christopher D CD; Duffield, Amy S AS; Armanios, Mary M
Publication Date: 2020-05-28

Variant appearance in text: TERT: Ile686Met
PubMed Link: 32076714
Variant Present in the following documents:
  • Main text
View BVdb publication page