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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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