Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 c.-198G>A
RB1 c.-198G>A - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000321.3(RB1):c.-198G>A AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 28125
- ClinVar RefSeq Alternation Syntax
- NM_000321.3:c.-198G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000492684
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs