Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly810Cys (p.G810C)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Gly810Cys (p.G810C) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys) AND not provided
- ClinVar Allele ID
- 194162
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.2428G>T
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.2221G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-11-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000177904
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs