Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 c.1216-1G>A
(
ENST00000267163.6,
ENST00000650461.1,
ENST00000713856.1,
ENST00000713857.1,
ENST00000713858.1 )
RB1 c.1216-1G>A ( ENST00000650461.1, ENST00000267163.6, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - Associated Disease
- retinoblastoma
- Source Database
- ClinVar
- Description
- NM_000321.3(RB1):c.1216-1G>A AND Retinoblastoma
- ClinVar Allele ID
- 132343
- ClinVar RefSeq Alternation Syntax
- NM_001407165.1:c.1216-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407166.1:c.1216-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000321.3:c.1216-1G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-05-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114725
- ClinVar Disease
- Retinoblastoma
- Observed Origin Sample
- germline
Drugs