Annotation Detail
Information
- Associated Genes
- COL11A2
- Associated Variants
-
COL11A2 c.2892+15A>C
(
ENST00000341947.7,
ENST00000374708.8 )
COL11A2 c.2892+15A>C ( ENST00000341947.7, ENST00000374708.8 ) - Associated Disease
- otospondylomegaepiphyseal dysplasia, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_080680.3(COL11A2):c.3150+15A>C AND Otospondylomegaepiphyseal dysplasia, autosomal recessive
- ClinVar Allele ID
- 55729
- ClinVar RefSeq Alternation Syntax
- NM_080680.3:c.3150+15A>C
- ClinVar RefSeq Alternation Syntax
- NM_080679.3:c.2829+15A>C
- ClinVar RefSeq Alternation Syntax
- NM_080681.3:c.2892+15A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000267485
- ClinVar Disease
- Otospondylomegaepiphyseal dysplasia, autosomal recessive
- Observed Origin Sample
- germline
Drugs