Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Arg92Gln (p.R92Q)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Arg92Gln (p.R92Q) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- 46,XX sex reversal 4
- Source Database
- ClinVar
- Description
- NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) AND 46,XX sex reversal 4
- ClinVar Allele ID
- 27835
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.275G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000490544
- ClinVar Disease
- 46,XX sex reversal 4
- Observed Origin Sample
- germline
- Pubmed
- 27855412
- Pubmed
- 11932325
- Pubmed
- 26523528
Drugs