E36* (p.Glu36Ter) variant of LYST (Lysosomal-trafficking regulator)
E36* (p.Glu36Ter) in LYST (Lysosomal-trafficking regulator) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E36* (p.Glu36Ter) variant details
- p.Glu36Ter
- rs2527301436
- ClinGen CA344969042
- ClinVar RCV003637117
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)