Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Asp6GlufsTer69 (p.D6Efs*69)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Asp6GlufsTer69 (p.D6Efs*69) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- 46,XY sex reversal 3
- Source Database
- ClinVar
- Description
- NM_004959.5(NR5A1):c.18del (p.Asp6fs) AND 46,XY sex reversal 3
- ClinVar Allele ID
- 27838
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.18del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013643
- ClinVar Disease
- 46,XY sex reversal 3
- Observed Origin Sample
- germline
- Pubmed
- 15579739
Drugs