TTN c.104981G>A ;(p.S34994N)

Variant ID: 2-179396361-C-T

NM_001267550.1(TTN):c.104981G>A;(p.S34994N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: S34994N
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Npj Genomic Medicine
Yehia, Lamis L; Ni, Ying Y; Eng, Charis C
Publication Date: 2017

Variant appearance in text: TTN: 104981G>A; S34994N
PubMed Link: 29263846
Variant Present in the following documents:
  • Main text
  • 41525_2017_Article_39.pdf
View BVdb publication page