Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Leu1793del (p.L1793del)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Glu1220del (p.E1220del) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Leu1793del (p.L1793del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu1220del (p.E1220del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu1914Lys (p.E1914K) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg1909Pro (p.R1909P) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg1909Gln (p.R1909Q) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ala1906Gly (p.A1906G) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg1250Trp (p.R1250W) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg1193His (p.R1193H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg904Cys (p.R904C) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg783Pro (p.R783P) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg783His (p.R783H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Phe764Leu (p.F764L) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ser642Leu (p.S642L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Pro600Ser (p.P600S) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg567His (p.R567H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ser532Pro (p.S532P) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Glu525Lys (p.E525K) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Ile524Val (p.I524V) ( ENST00000713768.1, ENST00000355349.4, 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.Ala223Thr (p.A223T) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Ile201Thr (p.I201T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu1914Lys (p.E1914K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1909Pro (p.R1909P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1909Gln (p.R1909Q) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala1906Gly (p.A1906G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1250Trp (p.R1250W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1193His (p.R1193H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg904Cys (p.R904C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg783Pro (p.R783P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg783His (p.R783H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Phe764Leu (p.F764L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ser642Leu (p.S642L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Pro600Ser (p.P600S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg567His (p.R567H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ser532Pro (p.S532P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Glu525Lys (p.E525K) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ile524Val (p.I524V) ( 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 )
MYH7 p.Ala223Thr (p.A223T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ile201Thr (p.I201T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- CARDIOMYOPATHY, DILATED, 1S
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs