S52* (p.Ser52Ter) variant of SYNGAP1 (Q96PV0)
S52* (p.Ser52Ter) in SYNGAP1 (Q96PV0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S52* (p.Ser52Ter) variant details
- p.Ser52Ter
- Ensembl rs1554304680
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available