Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Asp293Asn (p.D293N)
(
ENST00000620110.4,
ENST00000373588.9 )
NR5A1 p.Asp293Asn (p.D293N) ( ENST00000620110.4, ENST00000373588.9 ) - Associated Disease
- Premature ovarian failure 7
- Source Database
- ClinVar
- Description
- NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) AND Premature ovarian failure 7
- ClinVar Allele ID
- 27844
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.877G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-03-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013651
- ClinVar Disease
- Premature ovarian failure 7
- Observed Origin Sample
- germline
- Pubmed
- 19246354
Drugs