Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Thr1439Met (p.T1439M)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Thr1439Met (p.T1439M) ( ENST00000380518.8, ENST00000337299.7 ) - Associated Disease
- spondyloepiphyseal dysplasia congenita
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) AND Spondyloepiphyseal dysplasia congenita
- ClinVar Allele ID
- 32424
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.4109C>T
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.4316C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018928
- ClinVar Disease
- Spondyloepiphyseal dysplasia congenita
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 11746045
Drugs