Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Arg515= (p.R515=)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Arg515= (p.R515=) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Stickler syndrome, type I, nonsyndromic ocular Legg-Calve-Perthes disease Stickler syndrome type 1 Multiple epiphyseal dysplasia, Beighton type Spondyloepiphyseal dysplasia, Stanescu type Avascular necrosis of femoral head, primary, 1 spondyloperipheral dysplasia Spondylometaphyseal dysplasia - Sutcliffe type spondyloepiphyseal dysplasia congenita Namaqualand hip dysplasia Vitreoretinopathy with phalangeal epiphyseal dysplasia Spondyloepiphyseal dysplasia with metatarsal shortening spondyloepimetaphyseal dysplasia, Strudwick type achondrogenesis type II Kniest dysplasia Platyspondylic dysplasia, Torrance type
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) AND multiple conditions
- ClinVar Allele ID
- 254554
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.1545C>A
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.1338C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002494733
- ClinVar Disease
- Platyspondylic dysplasia, Torrance type
- ClinVar Disease
- Namaqualand hip dysplasia
- ClinVar Disease
- Stickler syndrome type 1
- ClinVar Disease
- Legg-Calve-Perthes disease
- ClinVar Disease
- Spondylometaphyseal dysplasia - Sutcliffe type
- ClinVar Disease
- Spondyloepiphyseal dysplasia with metatarsal shortening
- ClinVar Disease
- Multiple epiphyseal dysplasia, Beighton type
- ClinVar Disease
- Spondyloperipheral dysplasia
- ClinVar Disease
- Stickler syndrome, type I, nonsyndromic ocular
- ClinVar Disease
- Achondrogenesis type II
- ClinVar Disease
- Spondyloepiphyseal dysplasia, Stanescu type
- ClinVar Disease
- Spondyloepimetaphyseal dysplasia, Strudwick type
- ClinVar Disease
- Kniest dysplasia
- ClinVar Disease
- Spondyloepiphyseal dysplasia congenita
- ClinVar Disease
- Vitreoretinopathy with phalangeal epiphyseal dysplasia
- ClinVar Disease
- Avascular necrosis of femoral head, primary, 1
- Observed Origin Sample
- unknown
Drugs