Annotation Detail
Information
- Associated Genes
- COL11A2
- Associated Variants
-
COL11A2 p.Thr1475= (p.T1475=)
(
ENST00000341947.7,
ENST00000374708.8 )
COL11A2 p.Thr1475= (p.T1475=) ( ENST00000341947.7, ENST00000374708.8 ) - Associated Disease
- otospondylomegaepiphyseal dysplasia, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive
- ClinVar Allele ID
- 174362
- ClinVar RefSeq Alternation Syntax
- NM_080681.3:c.4425A>G
- ClinVar RefSeq Alternation Syntax
- NM_080680.3:c.4683A>G
- ClinVar RefSeq Alternation Syntax
- NM_080679.3:c.4362A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000299642
- ClinVar Disease
- Otospondylomegaepiphyseal dysplasia, autosomal recessive
- Observed Origin Sample
- germline
Drugs