Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 p.Glu748AspfsTer6 (p.E748Dfs*6)
(
ENST00000713858.1,
ENST00000713857.1,
ENST00000650461.1,
ENST00000267163.6,
ENST00000713856.1 )
RB1 p.Glu748AspfsTer6 (p.E748Dfs*6) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - Associated Disease
- retinoblastoma
- Source Database
- ClinVar
- Description
- NM_000321.3(RB1):c.2244del (p.Glu748fs) AND Retinoblastoma
- ClinVar Allele ID
- 28113
- ClinVar RefSeq Alternation Syntax
- NM_000321.3:c.2244del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1989-12-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013949
- ClinVar Disease
- Retinoblastoma
- Observed Origin Sample
- somatic
- Pubmed
- 2594029
Drugs