Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 p.Arg989Cys (p.R989C)
(
ENST00000337299.7,
ENST00000380518.8 )
COL2A1 p.Arg989Cys (p.R989C) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- spondylometaphyseal dysplasia Stickler syndrome type 1 Namaqualand hip dysplasia Legg-Calve-Perthes disease spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia, Stanescu type Avascular necrosis of femoral head, primary, 1 Kniest dysplasia achondrogenesis type II Multiple epiphyseal dysplasia, Beighton type Spondyloepiphyseal dysplasia with metatarsal shortening spondyloperipheral dysplasia Platyspondylic dysplasia, Torrance type Stickler syndrome, type I, nonsyndromic ocular
- Source Database
- ClinVar
- Description
- NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) AND multiple conditions
- ClinVar Allele ID
- 32405
- ClinVar RefSeq Alternation Syntax
- NM_001844.5:c.2965C>T
- ClinVar RefSeq Alternation Syntax
- NM_033150.3:c.2758C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762895
- 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
- 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
- Kniest dysplasia
- ClinVar Disease
- Spondyloepiphyseal dysplasia congenita
- ClinVar Disease
- Avascular necrosis of femoral head, primary, 1
- Observed Origin Sample
- unknown
Drugs