R31* (p.Arg31Ter) variant of SYNGAP1 (Q96PV0)
R31* (p.Arg31Ter) 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.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- rs1554304655
- Ensembl rs1554304655
- ClinGen CA363677878
- cosmic curated COSV53387
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SYNGAP1-Related Intellectual Disability. (PMID 30789692)