Annotation Detail
Information
- Associated Genes
- RSPO4
- Associated Variants
-
RSPO4 p.Gly67Arg (p.G67R)
(
ENST00000217260.9,
ENST00000400634.2 )
RSPO4 p.Gly67Arg (p.G67R) ( ENST00000217260.9, ENST00000400634.2 ) - Associated Disease
- Anonychia
- Source Database
- ClinVar
- Description
- NM_001029871.4(RSPO4):c.199G>C (p.Gly67Arg) AND Anonychia
- ClinVar Allele ID
- 39804
- ClinVar RefSeq Alternation Syntax
- NM_001029871.4:c.199G>C
- ClinVar RefSeq Alternation Syntax
- NM_001040007.3:c.199G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023832
- ClinVar Disease
- Anonychia
- Observed Origin Sample
- germline
- Pubmed
- 18070203
Drugs