Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly1173Arg (p.G1173R)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Gly1173Arg (p.G1173R) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- spondyloepiphyseal dysplasia congenita
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg) AND Spondyloepiphyseal dysplasia congenita
- ClinVar Allele ID
- 32420
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.3517G>C
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.3310G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-01-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018924
- ClinVar Disease
- Spondyloepiphyseal dysplasia congenita
- Observed Origin Sample
- germline
- Pubmed
- 10678662
Drugs