H123Y (p.His123Tyr) variant of LYST (Lysosomal-trafficking regulator)
H123Y (p.His123Tyr) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chédiak-Higashi syndrome. The record also includes published literature and structural context.
H123Y (p.His123Tyr) variant details
- p.His123Tyr
- rs2527132957
- ClinGen CA344965365
- ClinVar RCV002638487
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs3768067)
- UniProt: Uncertain significance (in dbSNP:rs3768067)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)