Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 p.Tyr606Ter (p.Y606*)
(
ENST00000713858.1,
ENST00000713857.1,
ENST00000650461.1,
ENST00000267163.6,
ENST00000713856.1 )
RB1 p.Tyr606Ter (p.Y606*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - Associated Disease
- retinoblastoma
- Source Database
- DisGeNET
- Description
- To describe the documented growth, clinical course, and histopathology of retinoblastomas in an untreated and otherwise normal right eye of a 27-year-old white male with a g.153211T>A (p.Tyr606X) mutation in the retinoblastoma 1 gene, whose left eye was enucleated at age 2 years for 2 retinoblastomas.
- Pubmed
- 16631255
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.499992532686291
- Year of publication
- 2006
Drugs