Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 p.Gly449Val (p.G449V)
(
ENST00000267163.6,
ENST00000650461.1,
ENST00000713856.1,
ENST00000713857.1,
ENST00000713858.1 )
RB1 p.Gly449Val (p.G449V) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - Associated Disease
- retinoblastoma
- Source Database
- ClinVar
- Description
- NM_000321.3(RB1):c.1346G>T (p.Gly449Val) AND Retinoblastoma
- ClinVar Allele ID
- 132346
- ClinVar RefSeq Alternation Syntax
- NM_000321.3:c.1346G>T
- 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/RCV000114728
- ClinVar Disease
- Retinoblastoma
- Observed Origin Sample
- germline
Drugs