Annotation Detail
Information
- Associated Genes
- COL11A2
- Associated Variants
-
COL11A2 p.Tyr1538= (p.Y1538=)
(
ENST00000341947.7,
ENST00000374708.8 )
COL11A2 p.Tyr1538= (p.Y1538=) ( ENST00000341947.7, ENST00000374708.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) AND not specified
- ClinVar Allele ID
- 307200
- ClinVar RefSeq Alternation Syntax
- NM_080679.3:c.4551C>T
- ClinVar RefSeq Alternation Syntax
- NM_080680.3:c.4872C>T
- ClinVar RefSeq Alternation Syntax
- NM_080681.3:c.4614C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000607000
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs