MYH7 c.3168G>C ;(p.E1056D)

Variant ID: 14-23891466-C-G

NM_000257.2(MYH7):c.3168G>C;(p.E1056D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: 3168G>C; Glu1056Asp
PubMed Link: 23233322
Variant Present in the following documents:
  • Main text
  • 12265_2012_Article_9425.pdf
View BVdb publication page