Chédiak-Higashi Syndrome(Chediak-Higashi syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | LYST/1130 | lysosomal trafficking regulator | 1q42.3 | Chr1, NC_000001.11 (235661031..235883713, complement) |
222683 nt | 59 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities