Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg1845Trp (p.R1845W)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Arg1845= (p.R1845=) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg1845Trp (p.R1845W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1845= (p.R1845=) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Congenital myopathy (disorder)
- Source Database
- DisGeNET
- Description
- A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (type I, MYH7) is associated with familial congenital myopathy, with large deposits of MyHC I in the subsarcolemmal region of type 1 muscle fibres, Myosin storage myopathy.
- Pubmed
- 15605950
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2004
Drugs