LYST Chromosome 1
Lysosomal trafficking regulator
Upload your DNA to see your personal genotypes for variants in LYST.
What This Gene Does
This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
Gene Info
Gene Group
"WD repeat domain containing|BEACH domain containing |MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q42.3
Ensembl
ENSG00000143669
Associated Conditions (20)
Chédiak-Higashi syndrome
LYST-related disorder
Inborn genetic diseases
Autoinflammatory syndrome
Meniere disease
Abnormal bleeding
Thrombocytopenia
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Melanoma
Spastic ataxia
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Recurrent infections
CHEDIAK-HIGASHI SYNDROME
ADULT TYPE
CHILDHOOD TYPE
Key Variants
RS111463684
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, LYST-related disorder, Chédiak-Higashi syndrome
Health Risk
RS111722949
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Inborn genetic diseases, LYST-related disorder
Health Risk
RS112739986
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder
Health Risk
RS113209379
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder
Health Risk
RS115330112
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, Chédiak-Higashi syndrome
Health Risk
RS116551057
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS117609949
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS1233751084
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS1335874945
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome
Health Risk
RS1349597556
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Inborn genetic diseases, Chédiak-Higashi syndrome
Health Risk
RS138393416
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
Health Risk
RS138443479
Conflicting classifications of pathogenicity
Chédiak-Higashi syndrome, Autoinflammatory syndrome, LYST-related disorder
Health Risk
All Variants (340)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2527116390 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527120778 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527122347 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527122910 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527128643 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527154062 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527257999 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527258499 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527258815 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527285147 | Health Risk | Pathogenic | LYST-related disorder, LYST-related disorder |
| RS2527301436 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527322667 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527324049 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527324515 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527363448 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527363613 | Health Risk | Pathogenic | Inborn genetic diseases, Chédiak-Higashi syndrome, Inborn genetic diseases |
| RS2527363889 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527364709 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527417807 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527417930 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527449218 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527449293 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527474663 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527505914 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527550514 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527550732 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527560402 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527714206 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527722597 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527761127 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527811287 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527844947 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527926022 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS2527994002 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS28942077 | Health Risk | Pathogenic | CHEDIAK-HIGASHI SYNDROME, ADULT TYPE, Chédiak-Higashi syndrome |
| RS370022675 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS373529106 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS538193441 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS747022808 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS752402013 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS756716492 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS756867102 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS757222354 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS760333915 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS773854714 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS775461913 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS778490429 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |
| RS80338642 | Health Risk | Pathogenic | CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE, Chédiak-Higashi syndrome |
| RS80338644 | Health Risk | Pathogenic | CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE, Chédiak-Higashi syndrome |
| RS80338645 | Health Risk | Pathogenic | Chédiak-Higashi syndrome, Chédiak-Higashi syndrome |