TSHR c.*245C>T

Variant ID: 14-81610942-C-T

NM_000369.2(TSHR):c.*245C>T

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.

Cardiology Research And Practice
Yu, Xing X; Fan, Yuxuan Y; Sun, Xiaopeng X; Wang, Xiaojing X; Guo, Qi Q; Fan, Zhiqing Z
Publication Date: 2022

Variant appearance in text: rs7144481
PubMed Link: 36032316
Variant Present in the following documents:
  • 9742071.f1.xlsx, sheet 1
  • CRP2022-9742071.pdf
View BVdb publication page



Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.

European Journal Of Applied Physiology
Varillas-Delgado, David D; Del Coso, Juan J; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Maestro, Antonio A; Morencos, Esther E
Publication Date: 2022-08

Variant appearance in text: rs7144481
PubMed Link: 35428907
Variant Present in the following documents:
  • Main text
  • 421_2022_Article_4945.pdf
View BVdb publication page



Molecular insights into the role of genetic determinants of congenital hypothyroidism.

Genomics & Informatics
Kollati, Yedukondalu Y; Akella, Radha Rama Devi RRD; Naushad, Shaik Mohammad SM; Patel, Rajesh K RK; Reddy, G Bhanuprakash GB; Dirisala, Vijaya R VR
Publication Date: 2021-09

Variant appearance in text: rs7144481
PubMed Link: 34638176
Variant Present in the following documents:
  • Main text
  • gi-21034suppl2.pdf
  • gi-21034.pdf
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: rs7144481
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Four Loci Are Associated with Cardiorespiratory Fitness and Endurance Performance in Young Chinese Females.

Scientific Reports
Zhao, Ying Y; Huang, Guoyuan G; Chen, Zuosong Z; Fan, Xiang X; Huang, Tao T; Liu, Jinsheng J; Zhang, Qing Q; Shen, Jingyi J; Li, Zhiqiang Z; Shi, Yongyong Y
Publication Date: 2020-06-22

Variant appearance in text: rs7144481
PubMed Link: 32572135
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_67045.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs7144481
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs7144481
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genes and Elite Marathon Running Performance: A Systematic Review.

Journal Of Sports Science & Medicine
Moir, Hannah J HJ; Kemp, Rachael R; Folkerts, Dirk D; Spendiff, Owen O; Pavlidis, Cristina C; Opara, Elizabeth E
Publication Date: 2019-09

Variant appearance in text: rs7144481
PubMed Link: 31427879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs7144481
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Inherited variants in genes somatically mutated in thyroid cancer.

Plos One
Campo, Chiara C; Köhler, Aleksandra A; Figlioli, Gisella G; Elisei, Rossella R; Romei, Cristina C; Cipollini, Monica M; Bambi, Franco F; Hemminki, Kari K; Gemignani, Federica F; Landi, Stefano S; Försti, Asta A
Publication Date: 2017

Variant appearance in text: rs7144481
PubMed Link: 28410400
Variant Present in the following documents:
  • Main text
  • pone.0174995.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs7144481
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genome-wide association study identifies three novel genetic markers associated with elite endurance performance.

Biology Of Sport
Ahmetov, Ii I; Kulemin, Na N; Popov, Dv D; Naumov, Va V; Akimov, Eb E; Bravy, Yr Y; Egorova, Es E; Galeeva, Aa A; Generozov, Ev E; Kostryukova, Es E; Larin, Ak A; Mustafina, Lj Lj; Ospanova, Ea E; Pavlenko, Av A; Starnes, Lm L; Żmijewski, P P; Alexeev, Dg D; Vinogradova, Ol O; Govorun, Vm V
Publication Date: 2015-03

Variant appearance in text: rs7144481
PubMed Link: 25729143
Variant Present in the following documents:
  • Main text
  • JBS-32-1124568.pdf
View BVdb publication page