MYH7 c.2147G>C ;(p.G716A)

Variant ID: 14-23895188-C-G

NM_000257.2(MYH7):c.2147G>C;(p.G716A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology
Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J
Publication Date: 2023-04-18

Variant appearance in text: MYH7: G716A
PubMed Link: 37131793
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research
Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH
Publication Date: 2013-02

Variant appearance in text: MYH7: Gly716Ala
PubMed Link: 23233322
Variant Present in the following documents:
  • Main text
  • 12265_2012_Article_9425.pdf
View BVdb publication page