Annotation Detail

Information
Associated Genes
WNT10A
Associated Variants
WNT10A p.Cys107Ter (p.C107*) ( ENST00000258411.8 )
WNT10A p.Cys107Ter (p.C107*) ( ENST00000258411.8 )
Associated Disease
Odonto-onycho-dermal dysplasia
Source Database
ClinVar
Description
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND Odonto-onycho-dermal dysplasia
Pubmed
22581971
ClinVar Allele ID
19500
ClinVar RefSeq Alternation Syntax
NM_025216.3:c.321C>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2024-03-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000004715
ClinVar Disease
Odonto-onycho-dermal dysplasia
Observed Origin Sample
germline
Pubmed
23401279
Pubmed
19559398
Drugs