Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Gly303Asp (p.G303D)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Gly303Asp (p.G303D) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Kniest dysplasia
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) AND Kniest dysplasia
- ClinVar Allele ID
- 32409
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.701G>A
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.908G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1994-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018914
- ClinVar Disease
- Kniest dysplasia
- Observed Origin Sample
- germline
- Pubmed
- 7874117
Drugs