CREBBP c.2330G>C ;(p.G777A)

Variant ID: 16-3823885-C-G

NM_004380.2(CREBBP):c.2330G>C;(p.G777A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Npj Genomic Medicine
Wang, Zhigang Z; Xu, Hongen H; Xiang, Tianchao T; Liu, Danhua D; Xu, Fei F; Zhao, Lixiang L; Feng, Yonghua Y; Xu, Linan L; Liu, Jialu J; Fang, Ye Y; Liu, Huanfei H; Li, Ruijun R; Hu, Xinxin X; Guan, Jingyuan J; Liu, Longshan L; Feng, Guiwen G; Shen, Qian Q; Xu, Hong H; Frishman, Dmitrij D; Tang, Wenxue W; Guo, Jiancheng J; Rao, Jia J; Shang, Wenjun W
Publication Date: 2021-07-02

Variant appearance in text: CREBBP: 2330G>C
PubMed Link: 34215756
Variant Present in the following documents:
  • 41525_2021_219_MOESM1_ESM.pdf
View BVdb publication page



Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, ChloƩ C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: CREBBP: G777A
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 3
View BVdb publication page