Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Leu1793Pro (p.L1793P)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Ala1766Thr (p.A1766T) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Tyr283Asp (p.Y283D) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg243His (p.R243H) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Leu1793Pro (p.L1793P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala1766Thr (p.A1766T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Tyr283Asp (p.Y283D) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg243His (p.R243H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Left ventricular noncompaction 5
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs