Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Asn222LysfsTer74 (p.N222Kfs*74)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Asn222LysfsTer74 (p.N222Kfs*74) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- Premature ovarian failure 7
- Source Database
- ClinVar
- Description
- NM_004959.5(NR5A1):c.666del (p.Asn222fs) AND Premature ovarian failure 7
- ClinVar Allele ID
- 27843
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.666del
- 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/RCV000013649
- ClinVar Disease
- Premature ovarian failure 7
- Observed Origin Sample
- germline
- Pubmed
- 19246354
Drugs