W29* (p.Trp29Ter) variant of SGCD (Delta-sarcoglycan)
W29* (p.Trp29Ter) in SGCD (Delta-sarcoglycan) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W29* (p.Trp29Ter) variant details
- p.Trp29Ter
- rs2481653253
- ClinGen CA362007673
- ClinVar RCV002750750
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). (PMID 10735275)