TCHP c.456G>A ;(p.E152=)

Variant ID: 12-110342598-G-A

NM_001143852.1(TCHP):c.456G>A;(p.E152=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: TCHP: E152E; rs74416240
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.

Nature Genetics
Miyazawa, Kazuo K; Ito, Kaoru K; Ito, Masamichi M; Zou, Zhaonan Z; Kubota, Masayuki M; Nomura, Seitaro S; Matsunaga, Hiroshi H; Koyama, Satoshi S; Ieki, Hirotaka H; Akiyama, Masato M; Koike, Yoshinao Y; Kurosawa, Ryo R; Yoshida, Hiroki H; Ozaki, Kouichi K; Onouchi, Yoshihiro Y; , ; Takahashi, Atsushi A; Matsuda, Koichi K; Murakami, Yoshinori Y; Aburatani, Hiroyuki H; Kubo, Michiaki M; Momozawa, Yukihide Y; Terao, Chikashi C; Oki, Shinya S; Akazawa, Hiroshi H; Kamatani, Yoichiro Y; Komuro, Issei I
Publication Date: 2023-01-19

Variant appearance in text: rs74416240
PubMed Link: 36653681
Variant Present in the following documents:
  • 41588_2022_1284_MOESM3_ESM.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: TCHP: 456G>A; E152E; rs74416240
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: TCHP: Glu152Glu; rs74416240
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.

Molecular Genetics & Genomic Medicine
Yasukochi, Yoshiki Y; Sakuma, Jun J; Takeuchi, Ichiro I; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Yamada, Yoshiji Y
Publication Date: 2019-09

Variant appearance in text: TCHP: E152E; rs74416240
PubMed Link: 31402603
Variant Present in the following documents:
  • Main text
  • MGG3-7-e925.pdf
View BVdb publication page



Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Biomedical Reports
Yamada, Yoshiji Y; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Takeuchi, Ichiro I; Sakuma, Jun J
Publication Date: 2018-11

Variant appearance in text: rs74416240
PubMed Link: 30402224
Variant Present in the following documents:
  • Main text
  • br-09-05-0383.pdf
View BVdb publication page



Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.

International Journal Of Molecular Medicine
Yamada, Yoshiji Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Yasukochi, Yoshiki Y; Takeuchi, Ichiro I; Sakuma, Jun J
Publication Date: 2018-11

Variant appearance in text: rs74416240
PubMed Link: 30226566
Variant Present in the following documents:
  • Main text
  • ijmm-42-05-2415.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TCHP: E152E; rs74416240
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page