Q24* (p.Gln24Ter) variant of SGCA (Alpha-sarcoglycan)
Q24* (p.Gln24Ter) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs2144493135
- ClinGen CA400176463
- ClinVar RCV001380121
- Ensembl rs2144493135
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available