Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Cys107Ter (p.C107*)
(
ENST00000258411.8 )
WNT10A p.Cys107Ter (p.C107*) ( ENST00000258411.8 ) - Associated Disease
- SchC6pf-Schulz-Passarge syndrome Tooth agenesis, selective, 4 Odonto-onycho-dermal dysplasia
- Source Database
- ClinVar
- Description
- NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND multiple conditions
- ClinVar Allele ID
- 19500
- ClinVar RefSeq Alternation Syntax
- NM_025216.3:c.321C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000477935
- ClinVar Disease
- Odonto-onycho-dermal dysplasia
- ClinVar Disease
- SchC6pf-Schulz-Passarge syndrome
- ClinVar Disease
- Tooth agenesis, selective, 4
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs