Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Arg565Cys (p.R565C)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Arg565Cys (p.R565C) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- COL2A1-related disorder
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) AND COL2A1-related disorder
- ClinVar Allele ID
- 32422
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.1693C>T
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.1486C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-02-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004528123
- ClinVar Disease
- COL2A1-related disorder
- Observed Origin Sample
- unknown
Drugs