Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Tyr258Asn (p.Y258N)
(
ENST00000648323.1 )
FOXL2 p.Tyr258Asn (p.Y258N) ( ENST00000648323.1 ) - Associated Disease
- Premature ovarian failure 3
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) AND Premature ovarian failure 3
- ClinVar Allele ID
- 19908
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.772T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005145
- ClinVar Disease
- Premature ovarian failure 3
- Observed Origin Sample
- germline
- Pubmed
- 12149404
Drugs