MYH7 c.3866G>A ;(p.R1289Q)

Variant ID: 14-23888492-C-T

NM_000257.2(MYH7):c.3866G>A;(p.R1289Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.

International Journal Of Molecular Sciences
Monda, Emanuele E; Lioncino, Michele M; Caiazza, Martina M; Simonelli, Vincenzo V; Nesti, Claudia C; Rubino, Marta M; Perna, Alessia A; Mauriello, Alfredo A; Budillon, Alberta A; Pota, Vincenzo V; Bruno, Giorgia G; Varone, Antonio A; Nigro, Vincenzo V; Santorelli, Filippo Maria FM; Pacileo, Giuseppe G; Russo, Maria Giovanna MG; Frisso, Giulia G; Sampaolo, Simone S; Limongelli, Giuseppe G
Publication Date: 2023-05-22

Variant appearance in text: MYH7: 3866G>A; Arg1289Gln
PubMed Link: 37240454
Variant Present in the following documents:
  • Main text
  • ijms-24-09108.pdf
View BVdb publication page



New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

Journal Of Clinical Medicine
Kolokotronis, Konstantinos K; Pluta, Natalie N; Klopocki, Eva E; Kunstmann, Erdmute E; Messroghli, Daniel D; Maack, Christoph C; Tejman-Yarden, Shai S; Arad, Michael M; Rost, Simone S; Gerull, Brenda B
Publication Date: 2020-07-09

Variant appearance in text: MYH7: 3866G>A; Arg1289Gln
PubMed Link: 32659924
Variant Present in the following documents:
  • Main text
  • jcm-09-02168.pdf
View BVdb publication page