TTN c.32954G>C ;(p.R10985P)

Variant ID: 2-179547564-C-G

NM_001267550.1(TTN):c.32954G>C;(p.R10985P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: TTN: 32954G>C; Arg10985Pro
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
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: 32954G>C; Arg10985Pro
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.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: R10985P; rs181395238
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: R10985P; rs181395238
PubMed Link: 32066673
Variant Present in the following documents:
  • 41398_2020_708_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: TTN: R10985P
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page