TNNT2 c.803A>T ;(p.K268I)

Variant ID: 1-201330414-T-A

NM_001276345.1(TNNT2):c.803A>T;(p.K268I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs397516482
PubMed Link: 34127679
Variant Present in the following documents:
  • 41525_2021_204_MOESM1_ESM.pdf
View BVdb publication page



Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02

Variant appearance in text: TNNT2: 803A>T
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
View BVdb publication page



A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

International Journal Of Molecular Sciences
Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L
Publication Date: 2016-07-30

Variant appearance in text: rs397516482
PubMed Link: 27483260
Variant Present in the following documents:
  • Main text
  • ijms-17-01239.pdf
View BVdb publication page