Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly318Arg (p.G318R)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Gly318Arg (p.G318R) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Autosomal dominant rhegmatogenous retinal detachment
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) AND Autosomal dominant rhegmatogenous retinal detachment
- ClinVar Allele ID
- 32435
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.952G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018940
- ClinVar Disease
- Autosomal dominant rhegmatogenous retinal detachment
- Observed Origin Sample
- germline
- Pubmed
- 15671297
Drugs