TTN c.30454C>T ;(p.R10152W)

Variant ID: 2-179566952-G-A

NM_001267550.1(TTN):c.30454C>T;(p.R10152W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: TTN: Arg10152Trp
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization of metastatic ultra-hypermutated interdigitating dendritic cell sarcoma through rapid research autopsy.

Oncotarget
Chen, Hui-Zi HZ; Bonneville, Russell R; Yu, Lianbo L; Wing, Michele R MR; Reeser, Julie W JW; Krook, Melanie A MA; Miya, Jharna J; Samorodnitsky, Eric E; Smith, Amy A; Martin, Dorrelyn D; Dao, Thuy T; Guo, Qishan Q; Liebner, David D; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S
Publication Date: 2019-01-08

Variant appearance in text: TTN: R10152W
PubMed Link: 30719225
Variant Present in the following documents:
  • oncotarget-10-277-s002.xlsx, sheet 2
  • oncotarget-10-277-s002.xlsx, sheet 4
  • oncotarget-10-277-s002.xlsx, sheet 8
  • oncotarget-10-277-s002.xlsx, sheet 10
  • oncotarget-10-277-s006.xlsx, sheet 10
  • oncotarget-10-277-s002.xlsx, sheet 7
  • oncotarget-10-277-s002.xlsx, sheet 5
  • oncotarget-10-277-s002.xlsx, sheet 3
  • oncotarget-10-277-s002.xlsx, sheet 9
  • oncotarget-10-277-s002.xlsx, sheet 6
View BVdb publication page