TNNT2 c.644G>C ;(p.R215P)

Variant ID: 1-201331116-C-G

NM_001276345.1(TNNT2):c.644G>C;(p.R215P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.

Journal Of Personalized Medicine
Weis, Angelika A; Krueck, Svenja S; Dombrowsky, Gregor G; Schänzer, Anne A; Jux, Christian C; Uebing, Anselm A; Voges, Inga I; Hitz, Marc-Phillip MP; Rupp, Stefan S
Publication Date: 2023-03-31

Variant appearance in text: TNNT2: 644G>C; Arg215Pro
PubMed Link: 37108997
Variant Present in the following documents:
  • Main text
  • jpm-13-00611.pdf
View BVdb publication page



Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Npj Genomic Medicine
Shakur, Rameen R; Ochoa, Juan Pablo JP; Robinson, Alan J AJ; Niroula, Abhishek A; Chandran, Aneesh A; Rahman, Taufiq T; Vihinen, Mauno M; Monserrat, Lorenzo L
Publication Date: 2021-06-14

Variant appearance in text: rs121964860
PubMed Link: 34127679
Variant Present in the following documents:
  • 41525_2021_204_MOESM1_ESM.pdf
View BVdb publication page