CREBBP c.5234G>A ;(p.W1745*)

Variant ID: 16-3779814-C-T

NM_004380.2(CREBBP):c.5234G>A;(p.W1745*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Blood Cancer Discovery
Fornerod, Maarten M; Ma, Jing J; Noort, Sanne S; Liu, Yu Y; Walsh, Michael P MP; Shi, Lei L; Nance, Stephanie S; Liu, Yanling Y; Wang, Yuanyuan Y; Song, Guangchun G; Lamprecht, Tamara T; Easton, John J; Mulder, Heather L HL; Yergeau, Donald D; Myers, Jacquelyn J; Kamens, Jennifer L JL; Obeng, Esther A EA; Pigazzi, Martina M; Jarosova, Marie M; Kelaidi, Charikleia C; Polychronopoulou, Sophia S; Lamba, Jatinder K JK; Baker, Sharyn D SD; Rubnitz, Jeffrey E JE; Reinhardt, Dirk D; van den Heuvel-Eibrink, Marry M MM; Locatelli, Franco F; Hasle, Henrik H; Klco, Jeffery M JM; Downing, James R JR; Zhang, Jinghui J; Pounds, Stanley S; Zwaan, C Michel CM; Gruber, Tanja A TA; , ; , ; , ; , ; , ; ,
Publication Date: 2021-11

Variant appearance in text: CREBBP: W1745*
PubMed Link: 34778799
Variant Present in the following documents:
  • bloodcandisc-2-586-s001.xlsx, sheet 11
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: CREBBP: W1745X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Hemasphere
Fontana, Diletta D; Ramazzotti, Daniele D; Aroldi, Andrea A; Redaelli, Sara S; Magistroni, Vera V; Pirola, Alessandra A; Niro, Antonio A; Massimino, Luca L; Mastini, Cristina C; Brambilla, Virginia V; Bombelli, Silvia S; Bungaro, Silvia S; Morotti, Alessandro A; Rea, Delphine D; Stagno, Fabio F; Martino, Bruno B; Campiotti, Leonardo L; Caocci, Giovanni G; Usala, Emilio E; Merli, Michele M; Onida, Francesco F; Bregni, Marco M; Elli, Elena Maria EM; Fumagalli, Monica M; Ciceri, Fabio F; Perego, Roberto A RA; Pagni, Fabio F; Mologni, Luca L; Piazza, Rocco R; Gambacorti-Passerini, Carlo C
Publication Date: 2020-12

Variant appearance in text: CREBBP: 5234G>A
PubMed Link: 33196013
Variant Present in the following documents:
  • hs9-4-e497-s004.xlsx, sheet 1
View BVdb publication page