Annotation Detail

Information
Associated Genes
WNT10A
Associated Variants
WNT10A p.Cys376Ter (p.C376*) ( ENST00000258411.8 )
WNT10A p.Cys376Ter (p.C376*) ( ENST00000258411.8 )
Associated Disease
Tooth agenesis, selective, 4 Odonto-onycho-dermal dysplasia
Source Database
ClinVar
Description
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) AND multiple conditions
ClinVar Allele ID
19503
ClinVar RefSeq Alternation Syntax
NM_025216.3:c.1128C>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-03-26
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003764526
ClinVar Disease
Odonto-onycho-dermal dysplasia
ClinVar Disease
Tooth agenesis, selective, 4
Observed Origin Sample
germline
Drugs