G43D (p.Gly43Asp) variant of LYST (Lysosomal-trafficking regulator)
G43D (p.Gly43Asp) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- rs2527300997
- ClinGen CA2574025385
- ClinVar RCV003469978
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely 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)