Annotation Detail

Information
Associated Genes
WNT10A
Associated Variants
WNT10A p.Gly213Ser (p.G213S) ( ENST00000258411.8 )
WNT10A p.Gly213Ser (p.G213S) ( ENST00000258411.8 )
Associated Disease
SchC6pf-Schulz-Passarge syndrome
Source Database
ClinVar
Description
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) AND SchC6pf-Schulz-Passarge syndrome
ClinVar Allele ID
143206
ClinVar RefSeq Alternation Syntax
NM_025216.3:c.637G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-01-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000270809
ClinVar Disease
SchC6pf-Schulz-Passarge syndrome
Observed Origin Sample
germline
Drugs