Y39* (p.Tyr39Ter) variant of SYNGAP1 (Q96PV0)
Y39* (p.Tyr39Ter) in SYNGAP1 (Q96PV0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y39* (p.Tyr39Ter) variant details
- p.Tyr39Ter
- rs2537283697
- ClinGen CA363677985
- ClinVar RCV003508259
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)