MYH7 c.4040A>G ;(p.Y1347C)

Variant ID: 14-23887548-T-C

NM_000257.2(MYH7):c.4040A>G;(p.Y1347C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

International Journal Of Molecular Medicine
Cecconi, Massimiliano M; Parodi, Maria I MI; Formisano, Francesco F; Spirito, Paolo P; Autore, Camillo C; Musumeci, Maria B MB; Favale, Stefano S; Forleo, Cinzia C; Rapezzi, Claudio C; Biagini, Elena E; Davì, Sabrina S; Canepa, Elisabetta E; Pennese, Loredana L; Castagnetta, Mauro M; Degiorgio, Dario D; Coviello, Domenico A DA
Publication Date: 2016-10

Variant appearance in text: MYH7: 4040A>G; Tyr1347Cys
PubMed Link: 27600940
Variant Present in the following documents:
  • Main text
  • ijmm-38-04-1111.pdf
View BVdb publication page