CREBBP c.4499A>C ;(p.Q1500P)

Variant ID: 16-3786712-T-G

NM_004380.2(CREBBP):c.4499A>C;(p.Q1500P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Nature Communications
Rusch, Michael M; Nakitandwe, Joy J; Shurtleff, Sheila S; Newman, Scott S; Zhang, Zhaojie Z; Edmonson, Michael N MN; Parker, Matthew M; Jiao, Yuannian Y; Ma, Xiaotu X; Liu, Yanling Y; Gu, Jiali J; Walsh, Michael F MF; Becksfort, Jared J; Thrasher, Andrew A; Li, Yongjin Y; McMurry, James J; Hedlund, Erin E; Patel, Aman A; Easton, John J; Yergeau, Donald D; Vadodaria, Bhavin B; Tatevossian, Ruth G RG; Raimondi, Susana S; Hedges, Dale D; Chen, Xiang X; Hagiwara, Kohei K; McGee, Rose R; Robinson, Giles W GW; Klco, Jeffery M JM; Gruber, Tanja A TA; Ellison, David W DW; Downing, James R JR; Zhang, Jinghui J
Publication Date: 2018-09-27

Variant appearance in text: CREBBP: Q1500P
PubMed Link: 30262806
Variant Present in the following documents:
  • 41467_2018_6485_MOESM10_ESM.xlsx, sheet 2
  • 41467_2018_6485_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The genomic landscape of hypodiploid acute lymphoblastic leukemia.

Nature Genetics
Holmfeldt, Linda L; Wei, Lei L; Diaz-Flores, Ernesto E; Walsh, Michael M; Zhang, Jinghui J; Ding, Li L; Payne-Turner, Debbie D; Churchman, Michelle M; Andersson, Anna A; Chen, Shann-Ching SC; McCastlain, Kelly K; Becksfort, Jared J; Ma, Jing J; Wu, Gang G; Patel, Samir N SN; Heatley, Susan L SL; Phillips, Letha A LA; Song, Guangchun G; Easton, John J; Parker, Matthew M; Chen, Xiang X; Rusch, Michael M; Boggs, Kristy K; Vadodaria, Bhavin B; Hedlund, Erin E; Drenberg, Christina C; Baker, Sharyn S; Pei, Deqing D; Cheng, Cheng C; Huether, Robert R; Lu, Charles C; Fulton, Robert S RS; Fulton, Lucinda L LL; Tabib, Yashodhan Y; Dooling, David J DJ; Ochoa, Kerri K; Minden, Mark M; Lewis, Ian D ID; To, L Bik LB; Marlton, Paula P; Roberts, Andrew W AW; Raca, Gordana G; Stock, Wendy W; Neale, Geoffrey G; Drexler, Hans G HG; Dickins, Ross A RA; Ellison, David W DW; Shurtleff, Sheila A SA; Pui, Ching-Hon CH; Ribeiro, Raul C RC; Devidas, Meenakshi M; Carroll, Andrew J AJ; Heerema, Nyla A NA; Wood, Brent B; Borowitz, Michael J MJ; Gastier-Foster, Julie M JM; Raimondi, Susana C SC; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Hunger, Stephen P SP; Loh, Mignon L ML; Mullighan, Charles G CG
Publication Date: 2013-03

Variant appearance in text: CREBBP: Gln1500Pro
PubMed Link: 23334668
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic profiling of B-progenitor acute lymphoblastic leukemia.

Best Practice & Research. Clinical Haematology
Mullighan, Charles G CG
Publication Date: 2011-12

Variant appearance in text: CREBBP: Q1500P
PubMed Link: 22127311
Variant Present in the following documents:
  • Main text
View BVdb publication page



CREBBP mutations in relapsed acute lymphoblastic leukaemia.

Nature
Mullighan, Charles G CG; Zhang, Jinghui J; Kasper, Lawryn H LH; Lerach, Stephanie S; Payne-Turner, Debbie D; Phillips, Letha A LA; Heatley, Sue L SL; Holmfeldt, Linda L; Collins-Underwood, J Racquel JR; Ma, Jing J; Buetow, Kenneth H KH; Pui, Ching-Hon CH; Baker, Sharyn D SD; Brindle, Paul K PK; Downing, James R JR
Publication Date: 2011-03-10

Variant appearance in text: CREBBP: Q1500P
PubMed Link: 21390130
Variant Present in the following documents:
  • Main text
View BVdb publication page