Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Leu345Pro (p.L345P)
(
ENST00000373960.4 )
DES p.Leu345Pro (p.L345P) ( ENST00000373960.4 ) - Associated Disease
- MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
- Source Database
- DisGeNET
- Description
- We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy.
- Pubmed
- 10545598
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.563528744337044
- Year of publication
- 1999
Drugs