Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Trp47Ter (p.W47*)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Trp47Ter (p.W47*) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Stickler syndrome, type I, nonsyndromic ocular
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) AND Stickler syndrome, type I, nonsyndromic ocular
- ClinVar Allele ID
- 32439
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.86-1639G>A
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.141G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018944
- ClinVar Disease
- Stickler syndrome, type I, nonsyndromic ocular
- Observed Origin Sample
- germline
- Pubmed
- 16752401
Drugs