Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Arg653Ter (p.R653*)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Arg653Ter (p.R653*) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Stickler syndrome type 1
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) AND Stickler syndrome type 1
- ClinVar Allele ID
- 32434
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.1957C>T
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.1750C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018938
- ClinVar Disease
- Stickler syndrome type 1
- Observed Origin Sample
- germline
- Pubmed
- 12939326
- Pubmed
- 10982970
Drugs