Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Ser1261Arg (p.S1261R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg369Pro (p.R369P) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg369Gln (p.R369Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ser1261Arg (p.S1261R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg369Pro (p.R369P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg369Gln (p.R369Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
Cardiomyopathies
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.162886610876929
Year of publication
NA
Drugs