Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly1047AlafsTer83 (p.G1047Afs*83)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Gly1047AlafsTer83 (p.G1047Afs*83) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) AND not provided
- ClinVar Allele ID
- 32404
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.3138del
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.2931del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000725373
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs