Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Phe228Ile (p.F228I)
(
ENST00000258411.8 )
WNT10A p.Phe228Ile (p.F228I) ( ENST00000258411.8 ) - Associated Disease
- ectodermal dysplasia
- Source Database
- ClinVar
- Description
- NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Ectodermal dysplasia
- ClinVar Allele ID
- 19501
- ClinVar RefSeq Alternation Syntax
- NM_025216.3:c.682T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001729336
- ClinVar Disease
- Ectodermal dysplasia
- Observed Origin Sample
- germline
Drugs