TERT c.2307C>G ;(p.L769=)

Variant ID: 5-1272375-G-C

NM_198253.2(TERT):c.2307C>G;(p.L769=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: TERT: L769=; rs117662357
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



A patient with two gliomas with independent oligodendroglioma and glioblastoma biology proved by DNA-methylation profiling: a case report and review of the literature.

Brain Tumor Pathology
Kraus, Theo F J TFJ; Schwartz, Christoph C; Machegger, Lukas L; Zellinger, Barbara B; Hölzl, Dorothee D; Schlicker, Hans U HU; Pöppe, Johannes J; Ladisich, Barbara B; Spendel, Mathias M; Kral, Michael M; Sotlar, Karl K
Publication Date: 2022-04

Variant appearance in text: TERT: Leu769=
PubMed Link: 35018523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biotinylated amplicon sequencing: A method for preserving DNA samples of limited quantity.

Practical Laboratory Medicine
Cravero, Karen K; Medford, Arielle A; Pallavajjala, Aparna A; Canzoniero, Jenna J; Hunter, Natasha N; Chu, David D; Cochran, Rory L RL; Waters, Ian I; Christenson, Eric S ES; Kyker-Snowman, Kelly K; Button, Berry B; Cole, Alex J AJ; Park, Ben Ho BH
Publication Date: 2018-11

Variant appearance in text: TERT: L769L
PubMed Link: 30140723
Variant Present in the following documents:
  • Main text
View BVdb publication page