R186C (p.Arg186Cys) variant of CDC42 (P60953)
R186C (p.Arg186Cys) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemophagocytic lymphohistiocytosis; CDC42-associated inflammatory disea. The record also includes published literature and structural context.
R186C (p.Arg186Cys) variant details
- p.Arg186Cys
- rs2522255954
- ClinGen CA338909822
- ClinVar RCV002613172
- ClinVar RCV005417362
- Pathogenic
- Familial hemophagocytic lymphohistiocytosis; CDC42-associated inflammatory disea
- Missense
- ClinVar: Pathogenic (Familial hemophagocytic lymphohistiocytosis; CDC42-associated in)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemophagocytic Lymphohistiocytosis. (PMID 20301617)