Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 c.-189G>T
RB1 c.-189G>T - Associated Disease
- retinoblastoma
- Source Database
- ClinVar
- Description
- NM_000321.3(RB1):c.-189G>T AND Retinoblastoma
- ClinVar Allele ID
- 28124
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2024-05-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013960
- ClinVar Disease
- Retinoblastoma
- Observed Origin Sample
- germline
- Pubmed
- 1881452
Drugs