Tyrosinase-positive Oculocutaneous Albinism(Oculocutaneous albinism type 2) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic 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 | OCA2/4948 | OCA2 melanosomal transmembrane protein | 15q13.1 | Chr15, NC_000015.10 (27719008..28099315, complement) |
380308 nt | 30 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MC1R/4157 | melanocortin 1 receptor | 16q24.3 | Chr16, NC_000016.10 (89918862..89920972) |
2111 nt | 1 | 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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