Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Arg1832Cys (p.R1832C) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg1832Gly (p.R1832G) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg1053Gln (p.R1053Q) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Val964Leu (p.V964L) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Ala862Val (p.A862V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 c.1888+1G>C ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 c.1888+1G>A ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg237Trp (p.R237W) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg1832Cys (p.R1832C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1832Gly (p.R1832G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1053Gln (p.R1053Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val964Leu (p.V964L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala862Val (p.A862V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 c.1888+1G>C ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 c.1888+1G>A ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg237Trp (p.R237W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
Cardiomyopathy, Dilated
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.262279434685565
Year of publication
NA
Drugs