Annotation Detail
Information
- Associated Genes
- SGCA
- Associated Variants
-
SGCA p.Arg284Gly (p.R284G)
(
ENST00000504073.2,
ENST00000262018.8,
ENST00000682109.1,
ENST00000344627.10 )
SGCA p.Arg284Cys (p.R284C) ( ENST00000344627.10, ENST00000504073.2, ENST00000262018.8, ENST00000682109.1 )
SGCA p.Arg284Gly (p.R284G) ( ENST00000262018.8, ENST00000344627.10, ENST00000504073.2, ENST00000682109.1 )
SGCA p.Arg284Cys (p.R284C) ( ENST00000262018.8, ENST00000344627.10, ENST00000504073.2, ENST00000682109.1 ) - Associated Disease
- Alpha-Sarcoglycanopathies
- Source Database
- DisGeNET
- Description
- Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
- Pubmed
- 9585331
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.323800186209124
- Year of publication
- 1998
Drugs