Q3* (p.Gln3Ter) variant of SGCD (Delta-sarcoglycan)
Q3* (p.Gln3Ter) 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.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- rs1768838504
- ClinGen CA362007506
- ClinVar RCV001970160
- ClinVar RCV005032008
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available