Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Cys376Ter (p.C376*)
(
ENST00000258411.8 )
WNT10A p.Cys376Ter (p.C376*) ( ENST00000258411.8 ) - Associated Disease
- Odonto-onycho-dermal dysplasia
- Source Database
- ClinVar
- Description
- NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) AND Odonto-onycho-dermal dysplasia
- ClinVar Allele ID
- 19503
- ClinVar RefSeq Alternation Syntax
- NM_025216.3:c.1128C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004719
- ClinVar Disease
- Odonto-onycho-dermal dysplasia
- Observed Origin Sample
- germline
- Pubmed
- 19559398
Drugs