MYH7 c.667G>T ;(p.A223S)

Variant ID: 14-23900859-C-A

NM_000257.2(MYH7):c.667G>T;(p.A223S)

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:

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.

European Journal Of Human Genetics : Ejhg
Zaragoza, Michael V MV; Brandon, Martin C MC; Diegoli, Marta M; Arbustini, Eloisa E; Wallace, Douglas C DC
Publication Date: 2011-02

Variant appearance in text: MYH7: A223S
PubMed Link: 20978534
Variant Present in the following documents:
  • Main text
  • ejhg2010169a.pdf
View BVdb publication page