Y75* (p.Tyr75Ter) variant of STXBP1 (Syntaxin-binding protein 1)
Y75* (p.Tyr75Ter) 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 structural context.
Y75* (p.Tyr75Ter) variant details
- p.Tyr75Ter
- rs2132461012
- ClinGen CA375176489
- ClinVar RCV006468284
- Ensembl rs2132461012
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available