Q55* (p.Gln55Ter) variant of SYNGAP1 (Q96PV0)
Q55* (p.Gln55Ter) 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.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- TOPMed rs752176449
- gnomAD rs752176449
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available