Annotation Detail
Information
- Associated Genes
- COL9A2
- Associated Variants
-
COL9A2 c.1054-15A>G
(
ENST00000372748.8 )
COL9A2 c.1054-15A>G ( ENST00000372748.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001852.4(COL9A2):c.1054-15A>G AND not provided
- ClinVar Allele ID
- 280945
- ClinVar RefSeq Alternation Syntax
- NM_001852.4:c.1054-15A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-11-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000842597
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs