CREBBP c.2635C>T ;(p.P879S)

Variant ID: 16-3820816-G-A

NM_004380.2(CREBBP):c.2635C>T;(p.P879S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery
Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT
Publication Date: 2022-11-02

Variant appearance in text: CREBBP: P879S
PubMed Link: 35960210
Variant Present in the following documents:
  • bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10
View BVdb publication page



Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Plos One
Brett, Maggie M; McPherson, John J; Zang, Zhi Jiang ZJ; Lai, Angeline A; Tan, Ee-Shien ES; Ng, Ivy I; Ong, Lai-Choo LC; Cham, Breana B; Tan, Patrick P; Rozen, Steve S; Tan, Ene-Choo EC
Publication Date: 2014

Variant appearance in text: CREBBP: P879S
PubMed Link: 24690944
Variant Present in the following documents:
  • Main text
  • pone.0093409.pdf
View BVdb publication page