Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Arg515= (p.R515=)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Arg515= (p.R515=) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Connective tissue disorder
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND Connective tissue disorder
- ClinVar Allele ID
- 254554
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.1545C>A
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.1338C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002277621
- ClinVar Disease
- Connective tissue disorder
- Observed Origin Sample
- germline
Drugs