R32* (p.Arg32Ter) variant of SGCD (Delta-sarcoglycan)
R32* (p.Arg32Ter) in SGCD (Delta-sarcoglycan) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
R32* (p.Arg32Ter) variant details
- p.Arg32Ter
- rs778760498
- ClinGen CA3530488
- NCI-TCGA Cosmic COSV6191
- cosmic curated COSV61910
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available