Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Arg128Gln (p.R128Q)
(
ENST00000258411.8 )
WNT10A p.Arg128Gln (p.R128Q) ( ENST00000258411.8 ) - Associated Disease
- Tooth agenesis, selective, 4 Odonto-onycho-dermal dysplasia
- Source Database
- ClinVar
- Description
- NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) AND multiple conditions
- ClinVar Allele ID
- 19502
- ClinVar RefSeq Alternation Syntax
- NM_025216.3:c.383G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000824631
- ClinVar Disease
- Odonto-onycho-dermal dysplasia
- ClinVar Disease
- Tooth agenesis, selective, 4
- Observed Origin Sample
- germline
Drugs