MYH7 c.641G>A ;(p.G214D)

Variant ID: 14-23900885-C-T

NM_000257.2(MYH7):c.641G>A;(p.G214D)

This variant was identified in 3 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: Gly214Asp
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: G214D
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page



Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

Clinical Chemistry
Waldmüller, Stephan S; Müller, Melanie M; Rackebrandt, Kirsten K; Binner, Priska P; Poths, Sven S; Bonin, Michael M; Scheffold, Thomas T
Publication Date: 2008-04

Variant appearance in text: MYH7: 641G>A; Gly214Asp
PubMed Link: 18258667
Variant Present in the following documents:
  • Main text
View BVdb publication page