Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Pro129Leu (p.P129L)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Gly123Ala (p.G123A) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Pro129Leu (p.P129L) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly123Ala (p.G123A) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- Premature ovarian failure 7
- Source Database
- ClinVar
- Description
- NM_004959.4(NR5A1):c.[368G>C;386C>T] AND Premature ovarian failure 7
- ClinVar Allele ID
- 38458
- ClinVar Allele ID
- 27848
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.386C>T
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.368G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-10-08
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013657
- ClinVar Disease
- Premature ovarian failure 7
- Observed Origin Sample
- germline
- Pubmed
- 19246354
- Pubmed
- 20887963
Drugs