MYH7 c.1121A>T ;(p.E374V)

Variant ID: 14-23899001-T-A

NM_000257.2(MYH7):c.1121A>T;(p.E374V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation
Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP
Publication Date: 2019-07-16

Variant appearance in text: MYH7: Glu374Val
PubMed Link: 31006259
Variant Present in the following documents:
  • cir-140-184-s001.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: E374V
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page