Annotation Detail
Information
- Associated Genes
- RSPO4
- Associated Variants
-
RSPO4 p.Cys73Tyr (p.C73Y)
(
ENST00000217260.9,
ENST00000400634.2 )
RSPO4 p.Cys73Tyr (p.C73Y) ( ENST00000217260.9, ENST00000400634.2 ) - Associated Disease
- Anonychia
- Source Database
- ClinVar
- Description
- NM_001029871.4(RSPO4):c.218G>A (p.Cys73Tyr) AND Anonychia
- ClinVar Allele ID
- 16232
- ClinVar RefSeq Alternation Syntax
- NM_001029871.4:c.218G>A
- ClinVar RefSeq Alternation Syntax
- NM_001040007.3:c.218G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001252
- ClinVar Disease
- Anonychia
- Observed Origin Sample
- germline
- Pubmed
- 17186469
Drugs