Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly600Val (p.G600V)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Gly600Val (p.G600V) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val) AND not provided
- ClinVar Allele ID
- 193177
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.1799G>T
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.1592G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-05-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000176730
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs