Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly453Ala (p.G453A)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Gly453Ala (p.G453A) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.1358G>C (p.Gly453Ala) AND not provided
- ClinVar Allele ID
- 192745
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.1151G>C
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.1358G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-02-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000176186
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs