Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly1197Ser (p.G1197S)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Gly1197Ser (p.G1197S) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Stickler syndrome type 1
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) AND Stickler syndrome type 1
- ClinVar Allele ID
- 32400
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.3382G>A
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.3589G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002247358
- ClinVar Disease
- Stickler syndrome type 1
- Observed Origin Sample
- germline
Drugs