Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 p.Trp563Ter (p.W563*)
(
ENST00000713858.1,
ENST00000713857.1,
ENST00000267163.6,
ENST00000650461.1,
ENST00000713856.1 )
RB1 p.Trp563Ter (p.W563*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - Associated Disease
- Malignant tumor of urinary bladder
- Source Database
- ClinVar
- Description
- NM_000321.3(RB1):c.1688G>A (p.Trp563Ter) AND Malignant tumor of urinary bladder
- ClinVar Allele ID
- 132351
- ClinVar RefSeq Alternation Syntax
- NM_000321.3:c.1688G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003332119
- ClinVar Disease
- Malignant tumor of urinary bladder
- Observed Origin Sample
- somatic
Drugs