Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.His1901Leu (p.H1901L)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Arg1845Trp (p.R1845W) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Arg1845= (p.R1845=) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Leu1793Pro (p.L1793P) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.His1901Leu (p.H1901L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1845Trp (p.R1845W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1845= (p.R1845=) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Leu1793Pro (p.L1793P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- MYOPATHY, MYOSIN STORAGE (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.362442976848723
- Year of publication
- NA
Drugs