DOT1L c.2053C>A ;(p.P685T)

Variant ID: 19-2216409-C-A

NM_032482.2(DOT1L):c.2053C>A;(p.P685T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma.

Cancer Cell
Mackay, Alan A; Burford, Anna A; Carvalho, Diana D; Izquierdo, Elisa E; Fazal-Salom, Janat J; Taylor, Kathryn R KR; Bjerke, Lynn L; Clarke, Matthew M; Vinci, Mara M; Nandhabalan, Meera M; Temelso, Sara S; Popov, Sergey S; Molinari, Valeria V; Raman, Pichai P; Waanders, Angela J AJ; Han, Harry J HJ; Gupta, Saumya S; Marshall, Lynley L; Zacharoulis, Stergios S; Vaidya, Sucheta S; Mandeville, Henry C HC; Bridges, Leslie R LR; Martin, Andrew J AJ; Al-Sarraj, Safa S; Chandler, Christopher C; Ng, Ho-Keung HK; Li, Xingang X; Mu, Kun K; Trabelsi, Saoussen S; Brahim, Dorra H'mida-Ben DH; Kisljakov, Alexei N AN; Konovalov, Dmitry M DM; Moore, Andrew S AS; Carcaboso, Angel Montero AM; Sunol, Mariona M; de Torres, Carmen C; Cruz, Ofelia O; Mora, Jaume J; Shats, Ludmila I LI; Stavale, João N JN; Bidinotto, Lucas T LT; Reis, Rui M RM; Entz-Werle, Natacha N; Farrell, Michael M; Cryan, Jane J; Crimmins, Darach D; Caird, John J; Pears, Jane J; Monje, Michelle M; Debily, Marie-Anne MA; Castel, David D; Grill, Jacques J; Hawkins, Cynthia C; Nikbakht, Hamid H; Jabado, Nada N; Baker, Suzanne J SJ; Pfister, Stefan M SM; Jones, David T W DTW; Fouladi, Maryam M; von Bueren, André O AO; Baudis, Michael M; Resnick, Adam A; Jones, Chris C
Publication Date: 2017-10-09

Variant appearance in text: DOT1L: P685T
PubMed Link: 28966033
Variant Present in the following documents:
  • mmc7.xlsx, sheet 1
View BVdb publication page