Q28* (p.Gln28Ter) variant of DMD (Dystrophin)
Q28* (p.Gln28Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- cosmic curated COSV10730
- gnomAD rs1477536019
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available