TTN c.39820C>T ;(p.P13274S)

Variant ID: 2-179514619-G-A

NM_001267550.1(TTN):c.39820C>T;(p.P13274S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology
Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y
Publication Date: 2022

Variant appearance in text: TTN: P13274S; rs765750954
PubMed Link: 35966080
Variant Present in the following documents:
  • Table_1.xlsx, sheet 5
View BVdb publication page



A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: TTN: 39820C>T; P13274S
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients.

Translational Psychiatry
Li, Mo M; Shen, Lu L; Chen, Luan L; Huai, Cong C; Huang, Hailiang H; Wu, Xi X; Yang, Chao C; Ma, Jingsong J; Zhou, Wei W; Du, Huihui H; Fan, Lingzi L; He, Lin L; Wan, Chunling C; Qin, Shengying S
Publication Date: 2020-01-16

Variant appearance in text: TTN: P13274S; rs765750954
PubMed Link: 32066673
Variant Present in the following documents:
  • 41398_2020_708_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: TTN: P13274S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 56
View BVdb publication page



Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability.

International Journal Of Environmental Research And Public Health
Nguyen, Dang Ton DT; Nguyen, Hai Ha HH; Nguyen, Thuy Duong TD; Nguyen, Thi Thanh Hoa TTH; Nakano, Kaoru K; Maejima, Kazuhiro K; Sasaki-Oku, Aya A; Nguyen, Van Ba VB; Nguyen, Duy Bac DB; Le, Bach Quang BQ; Wong, Jing Hao JH; Tsunoda, Tatsuhiko T; Nakagawa, Hidewaki H; Fujimoto, Akihiro A; Nong, Van Hai VH
Publication Date: 2018-11-23

Variant appearance in text: TTN: P13274S
PubMed Link: 30477169
Variant Present in the following documents:
  • Main text
  • ijerph-15-02629.pdf
View BVdb publication page