Uveal Melanoma(Intraocular melanoma) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cancer 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 | GNAQ/2776 | G protein subunit alpha q | 9q21.2 | Chr9, NC_000009.12 (77716097..78031811, complement) |
315715 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | BAP1/8314 | BRCA1 associated protein 1 | 3p21.1 | Chr3, NC_000003.12 (52401008..52410008, complement) |
9001 nt | 17 | 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 Human Phenotype Ontology NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |