TTN c.99310C>T ;(p.R33104C)

Variant ID: 2-179402624-G-A

NM_001267550.1(TTN):c.99310C>T;(p.R33104C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance.

Journal Of Clinical Medicine
Iglesias, Mercedes M; Ripoll-Vera, Tomas T; Perez-Luengo, Consuelo C; García, Ana Belen AB; Moyano, Susana S; Canos, Juan Carlos JC; Borondo, Juan Carlos JC; Alvarez, Jorge J; Heine-Suñer, Damian D; Barcelo, Bernardino B
Publication Date: 2021-04-21

Variant appearance in text: TTN: Arg33104Cys
PubMed Link: 33919104
Variant Present in the following documents:
  • Main text
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: R33104C
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: TTN: R33104C; rs766169253
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page