Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Tyr1391Cys (p.Y1391C)
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 p.Tyr1391Cys (p.Y1391C) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Platyspondylic dysplasia, Torrance type
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) AND Platyspondylic dysplasia, Torrance type
- Pubmed
- 17726487
- ClinVar Allele ID
- 32428
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.4172A>G
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.3965A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018931
- ClinVar Disease
- Platyspondylic dysplasia, Torrance type
- Observed Origin Sample
- germline
- Pubmed
- 15266623
- Pubmed
- 14729840
Drugs