Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Pro129Leu (p.P129L)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Pro129Leu (p.P129L) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- NR5A1-related disorder
- Source Database
- ClinVar
- Description
- NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) AND NR5A1-related disorder
- ClinVar Allele ID
- 38458
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.386C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-02-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003977699
- ClinVar Disease
- NR5A1-related disorder
- Observed Origin Sample
- germline
Drugs