Annotation Detail
Information
- Associated Genes
- CAPN3
- Associated Variants
-
CAPN3 p.Arg788SerfsTer96 (p.R788Sfs*96)
CAPN3 p.Val787_Arg788insSerSer (p.V787_R788insSS)
CAPN3 p.Leu789GlyfsTer95 (p.L789Gfs*95)
CAPN3 p.Arg788SerfsTer96 (p.R788Sfs*96)
CAPN3 p.Val787_Arg788insSerSer (p.V787_R788insSS)
CAPN3 p.Leu789GlyfsTer95 (p.L789Gfs*95) - Associated Disease
- Eosinophilic myositis (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.121085767488321
- Year of publication
- NA
Drugs