TTN c.58456C>A ;(p.P19486T)

Variant ID: 2-179458571-G-T

NM_001267550.1(TTN):c.58456C>A;(p.P19486T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multi-site desmoplastic small round cell tumors are genetically related and immune-cold.

Npj Precision Oncology
Wu, Chia-Chin CC; Beird, Hannah C HC; Lamhamedi-Cherradi, Salah-Eddine SE; Soeung, Melinda M; Ingram, Davis D; Truong, Danh D DD; Porter, Robert W RW; Krishnan, Sandhya S; Little, Latasha L; Gumbs, Curtis C; Zhang, Jianhua J; Titus, Mark M; Genovese, Giannicola G; Ludwig, Joseph A JA; Lazar, Alexander J AJ; Hayes-Jordan, Andrea A; Futreal, P Andrew PA
Publication Date: 2022-04-04

Variant appearance in text: TTN: P19486T
PubMed Link: 35379887
Variant Present in the following documents:
  • 41698_2022_257_MOESM2_ESM.xlsx, sheet 2
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: P19486T
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
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: P19486T
PubMed Link: 32066673
Variant Present in the following documents:
  • 41398_2020_708_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page