MYH7 c.694A>C ;(p.N232H)

Variant ID: 14-23900832-T-G

NM_000257.2(MYH7):c.694A>C;(p.N232H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH7: Asn232His
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.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: N232H
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page