HR c.328T>A ;(p.F110I)

Variant ID: 8-21986356-A-T

NM_005144.4(HR):c.328T>A;(p.F110I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Increased Myocardial Oxygen Consumption Precedes Contractile Dysfunction in Hypertrophic Cardiomyopathy Caused by Pathogenic TNNT2 Gene Variants.

Journal Of The American Heart Association
Parbhudayal, Rahana Y RY; Harms, Hendrik J HJ; Michels, Michelle M; van Rossum, Albert C AC; Germans, Tjeerd T; van der Velden, Jolanda J
Publication Date: 2020-04-21

Variant appearance in text: HR: F110I
PubMed Link: 32290750
Variant Present in the following documents:
  • JAH3-9-e015316.pdf
View BVdb publication page



Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis.

Scientific Reports
Liu, Qun Q; Li, Diandian D; Berger, Alan E AE; Johns, Roger A RA; Gao, Li L
Publication Date: 2017-09-20

Variant appearance in text: HR: Phe110Ile
PubMed Link: 28931939
Variant Present in the following documents:
  • 41598_2017_12289_MOESM1_ESM.pdf
View BVdb publication page



The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

Plos One
Ahmad, Ferhaan F; Banerjee, Sanjay K SK; Lage, Michele L ML; Huang, Xueyin N XN; Smith, Stephen H SH; Saba, Samir S; Rager, Jennifer J; Conner, David A DA; Janczewski, Andrzej M AM; Tobita, Kimimasa K; Tinney, Joseph P JP; Moskowitz, Ivan P IP; Perez-Atayde, Antonio R AR; Keller, Bradley B BB; Mathier, Michael A MA; Shroff, Sanjeev G SG; Seidman, Christine E CE; Seidman, J G JG
Publication Date: 2008-07-09

Variant appearance in text: HR: F110I
PubMed Link: 18612386
Variant Present in the following documents:
  • pone.0002642.pdf
View BVdb publication page



Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Morimoto, S S; Lu, Q-W QW; Harada, K K; Takahashi-Yanaga, F F; Minakami, R R; Ohta, M M; Sasaguri, T T; Ohtsuki, I I
Publication Date: 2002-01-22

Variant appearance in text: HR: F110I
PubMed Link: 11773635
Variant Present in the following documents:
  • Main text
View BVdb publication page