L19C (p.Leu19Cys) variant of RAD51C (O43502)
L19C (p.Leu19Cys) in RAD51C (O43502) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L19C (p.Leu19Cys) variant details
- p.Leu19Cys
- rs2509261130
- ClinGen CA2580094324
- ClinVar RCV003030415
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)