Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Phe228Ile (p.F228I)
(
ENST00000258411.8 )
WNT10A p.Phe228Ile (p.F228I) ( ENST00000258411.8 ) - Associated Disease
- Odonto-onycho-dermal dysplasia
- Source Database
- ClinVar
- Description
- NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Odonto-onycho-dermal dysplasia
- ClinVar Allele ID
- 19501
- ClinVar RefSeq Alternation Syntax
- NM_025216.3:c.682T>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-04-12
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000004717
- ClinVar Disease
- Odonto-onycho-dermal dysplasia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 23401279
- Pubmed
- 19559398
- Pubmed
- 21484994
- Pubmed
- 24449199
- Pubmed
- 22581971
Drugs