Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Pro131Leu (p.P131L)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Pro131Leu (p.P131L) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- spermatogenic failure 8
- Source Database
- ClinVar
- Description
- NM_004959.5(NR5A1):c.392C>T (p.Pro131Leu) AND Spermatogenic failure 8
- ClinVar Allele ID
- 38849
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.392C>T
- 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/RCV000022776
- ClinVar Disease
- Spermatogenic failure 8
- Observed Origin Sample
- germline
- Pubmed
- 20887963
Drugs