R425H (p.Arg425His) variant of PPARG (P37231)
R425H (p.Arg425His) in PPARG (P37231) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus.
R425H (p.Arg425His) variant details
- p.Arg425His
- NCI-TCGA TCGA novel
- TOPMed rs2051760352
- Pathogenic/Likely pathogenic
- PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus
- Missense
- ClinVar: Pathogenic/Likely pathogenic (PPARG-related familial partial lipodystrophy; Type 2 diabetes me)
- EBI: Pathogenic (in FPLD3)
- UniProt: Pathogenic (in FPLD3)