Retinoblastoma
An Autosomal dominant mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Eye 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 | RB1/5925 | RB transcriptional corepressor 1 | 13q14.2 | Chr13, NC_000013.11 (48303751..48481890) |
178140 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FANCM/57697 | FA complementation group M | 14q21.2 | Chr14, NC_000014.9 (45135930..45200890) |
64961 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |