Annotation Detail
Information
- Associated Genes
- DYSF
- Associated Variants
-
DYSF MUTATION
DYSF MUTATION
DYSF p.Arg2039Gln (p.R2039Q) ( ENST00000258104.8, ENST00000394120.6, ENST00000409366.5, ENST00000409582.7, ENST00000409651.5, ENST00000409744.5, ENST00000409762.5, ENST00000410020.8, ENST00000410041.1, ENST00000413539.6, ENST00000429174.6, ENST00000479049.6, ENST00000698058.1, ENST00000698059.1 )
DYSF p.Arg2039Gln (p.R2039Q) ( ENST00000258104.8, ENST00000394120.6, ENST00000409366.5, ENST00000409582.7, ENST00000409651.5, ENST00000409744.5, ENST00000409762.5, ENST00000410020.8, ENST00000410041.1, ENST00000413539.6, ENST00000429174.6, ENST00000479049.6, ENST00000698058.1, ENST00000698059.1 ) - Associated Disease
- Miyoshi myopathy
- Source Database
- DisGeNET
- Description
- Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
- Pubmed
- 11468312
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.577372279813139
- Year of publication
- 2001
Drugs