Annotation Detail
Information
- Associated Genes
- WNT10A
- Associated Variants
-
WNT10A p.Asp217Asn (p.D217N)
(
ENST00000258411.8 )
WNT10A p.Asp217Asn (p.D217N) ( ENST00000258411.8 ) - Associated Disease
- SchC6pf-Schulz-Passarge syndrome
- Source Database
- ClinVar
- Description
- NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND SchC6pf-Schulz-Passarge syndrome
- ClinVar Allele ID
- 39524
- ClinVar RefSeq Alternation Syntax
- NM_025216.3:c.649G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000271824
- ClinVar Disease
- SchC6pf-Schulz-Passarge syndrome
- Observed Origin Sample
- germline
Drugs