MYH7 c.741C>G ;(p.F247L)

Variant ID: 14-23900682-G-C

NM_000257.2(MYH7):c.741C>G;(p.F247L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.

Open Heart
de Feria, Alejandro E AE; Kott, Andrew E AE; Becker, Jason R JR
Publication Date: 2021-02

Variant appearance in text: MYH7: F247L
PubMed Link: 33637569
Variant Present in the following documents:
  • openhrt-2020-001560supp001.pdf
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: F247L
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page