Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 p.Arg445Ter (p.R445*)
(
ENST00000267163.6,
ENST00000650461.1,
ENST00000713856.1,
ENST00000713857.1,
ENST00000713858.1 )
RB1 p.Arg445Ter (p.R445*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - Associated Disease
- bone osteosarcoma Malignant tumor of urinary bladder retinoblastoma Small cell lung carcinoma
- Source Database
- ClinVar
- Description
- NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) AND multiple conditions
- ClinVar Allele ID
- 28110
- ClinVar RefSeq Alternation Syntax
- NM_000321.3:c.1333C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496351
- ClinVar Disease
- Bone osteosarcoma
- ClinVar Disease
- Malignant tumor of urinary bladder
- ClinVar Disease
- Small cell lung carcinoma
- ClinVar Disease
- Retinoblastoma
- Observed Origin Sample
- unknown
Drugs