Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Asn1264ArgfsTer22 (p.N1264Rfs*22)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Asn1264ArgfsTer22 (p.N1264Rfs*22) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.3791_3794del (p.Asn1264fs) AND not provided
- ClinVar Allele ID
- 195084
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.3584_3587del
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.3791_3794del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-03-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000179086
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs