Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Arg989Cys (p.R989C)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Arg989Cys (p.R989C) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- spondyloepiphyseal dysplasia congenita
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND Spondyloepiphyseal dysplasia congenita
- ClinVar Allele ID
- 32405
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.2965C>T
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.2758C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-01-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018910
- ClinVar Disease
- Spondyloepiphyseal dysplasia congenita
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Pubmed
- 7752132
- Pubmed
- 8325895
- Pubmed
- 9101290
Drugs