TTN c.15178G>A ;(p.V5060I)

Variant ID: 2-179599473-C-T

NM_001267550.1(TTN):c.15178G>A;(p.V5060I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: TTN: V5060I; rs72648929
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: TTN: V5060I; rs72648929
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 7
  • can-22-2224_table_s8_suppst8.xlsx, sheet 18
  • can-22-2224_table_s8_suppst8.xlsx, sheet 1
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: V5060I; rs72648929
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts.

Translational Psychiatry
Jiang, Shan S; Zhou, Daizhan D; Wang, Yin-Ying YY; Jia, Peilin P; Wan, Chunling C; Li, Xingwang X; He, Guang G; Cao, Dongmei D; Jiang, Xiaoqian X; Kendler, Kenneth S KS; Tsuang, Ming M; Mize, Travis T; Wu, Jain-Shing JS; Lu, Yimei Y; He, Lin L; Chen, Jingchun J; Zhao, Zhongming Z; Chen, Xiangning X
Publication Date: 2020-09-01

Variant appearance in text: TTN: V5060I
PubMed Link: 32873781
Variant Present in the following documents:
  • 41398_2020_987_MOESM15_ESM.xlsx, sheet 4
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: V5060I
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 12
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 9
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 55
View BVdb publication page



Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Scientific Reports
Tong, Wenjia W; Wang, Yajian Y; Lu, Yun Y; Ye, Tongsheng T; Song, Conglei C; Xu, Yuanyuan Y; Li, Min M; Ding, Jie J; Duan, Yuanyuan Y; Zhang, Le L; Gu, Weiyue W; Zhao, Xiaoling X; Yang, Xiu-An XA; Jin, Danqun D
Publication Date: 2018-03-26

Variant appearance in text: TTN: 15178G>A; V5060I; rs72648929
PubMed Link: 29581464
Variant Present in the following documents:
  • 41598_2018_23503_MOESM1_ESM.xls, sheet 6
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: TTN: V5060I
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page