Annotation Detail
Information
- Associated Genes
- EDN1
- Associated Variants
-
EDN1 p.Glu106= (p.E106=)
(
ENST00000379375.6 )
EDN1 p.Glu106= (p.E106=) ( ENST00000379375.6 ) - Associated Disease
- Auriculocondylar syndrome 3
- Source Database
- ClinVar
- Description
- NM_001955.5(EDN1):c.318A>G (p.Glu106=) AND Auriculocondylar syndrome 3
- ClinVar Allele ID
- 1245302
- ClinVar RefSeq Alternation Syntax
- NM_001168319.2:c.315A>G
- ClinVar RefSeq Alternation Syntax
- NM_001955.5:c.318A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001661267
- ClinVar Disease
- Auriculocondylar syndrome 3
- Observed Origin Sample
- germline
Drugs