Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Pro1483SerfsTer30 (p.P1483Sfs*30)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Pro1483SerfsTer30 (p.P1483Sfs*30) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs) AND not provided
- ClinVar Allele ID
- 195123
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.4240_4243del
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.4447_4450del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-02-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000179141
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs