Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Arg653Ter (p.R653*)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Gly318Arg (p.G318R) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Arg653Ter (p.R653*) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly318Arg (p.G318R) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- NA
Drugs