TTN c.54886C>G ;(p.P18296A)

Variant ID: 2-179467243-G-C

NM_001267550.1(TTN):c.54886C>G;(p.P18296A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: TTN: P18296A
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 1
  • can-22-2224_table_s8_suppst8.xlsx, sheet 7
  • can-22-2224_table_s8_suppst8.xlsx, sheet 18
View BVdb publication page



Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.

Human Genomics
Chen, Shasha S; Jin, Qinchun Q; Hou, Shiqiang S; Li, Mingfei M; Zhang, Yuan Y; Guan, Lihua L; Pan, Wenzhi W; Ge, Junbo J; Zhou, Daxin D
Publication Date: 2022-09-07

Variant appearance in text: TTN: P18296A
PubMed Link: 36071494
Variant Present in the following documents:
  • Main text
  • 40246_2022_Article_405.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: TTN: P18296A
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: TTN: 54886C>G; P18296A
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Cell Death & Disease
Zhou, Qiang-Hua QH; Deng, Chuang-Zhong CZ; Li, Zai-Shang ZS; Chen, Jie-Ping JP; Yao, Kai K; Huang, Kang-Bo KB; Liu, Ting-Yu TY; Liu, Zhuo-Wei ZW; Qin, Zi-Ke ZK; Zhou, Fang-Jian FJ; Huang, Wenlin W; Han, Hui H; Liu, Ran-Yi RY
Publication Date: 2018-06-07

Variant appearance in text: TTN: 54886C>G; P18296A
PubMed Link: 29880898
Variant Present in the following documents:
  • Main text
  • 41419_2018_736_MOESM6_ESM.xlsx, sheet 1
  • 41419_2018_Article_736.pdf
View BVdb publication page