L36* (p.Leu36Ter) variant of STXBP1 (Syntaxin-binding protein 1)
L36* (p.Leu36Ter) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L36* (p.Leu36Ter) variant details
- p.Leu36Ter
- rs1085307900
- ClinGen CA375176209
- cosmic curated COSV10821
- ClinVar RCV000489814
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)