Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 p.Arg455Ter (p.R455*)
(
ENST00000267163.6,
ENST00000650461.1,
ENST00000713856.1,
ENST00000713857.1,
ENST00000713858.1 )
RB1 p.Arg455Ter (p.R455*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - Associated Disease
- retinoblastoma
- Source Database
- DisGeNET
- Description
- A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree.
- Pubmed
- 20059380
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.499992532686291
- Year of publication
- 2010
Drugs