CREBBP c.4660A>T ;(p.K1554*)

Variant ID: 16-3786105-T-A

NM_004380.2(CREBBP):c.4660A>T;(p.K1554*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit.

Jama Network Open
Zhu, Yunqian Y; Hu, Liyuan L; Yang, Lin L; Wang, Laishuan L; Lu, Yulan Y; Dong, Xinran X; Xiao, Tiantian T; Xu, Zhengmin Z; Wu, Bingbing B; Zhou, Wenhao W
Publication Date: 2022-07-01

Variant appearance in text: CREBBP: 4660A>T
PubMed Link: 35816303
Variant Present in the following documents:
  • jamanetwopen-e2220986-s001.pdf
View BVdb publication page



Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer
Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF
Publication Date: 2020-07-31

Variant appearance in text: CREBBP: 4660A>T; Lys1554*
PubMed Link: 32736575
Variant Present in the following documents:
  • 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Molecular Genetics & Genomic Medicine
Yu, Sha S; Wu, Bingbing B; Qian, Yanyan Y; Zhang, Ping P; Lu, Yulan Y; Dong, Xinran X; Wang, Qing Q; Zhao, Xuemei X; Liu, Renchao R; Zhou, Wenhao W; Wang, Huijun H
Publication Date: 2019-12

Variant appearance in text: CREBBP: 4660A>T
PubMed Link: 31637876
Variant Present in the following documents:
  • Main text
  • MGG3-7-e1009.pdf
View BVdb publication page