Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Arg255Leu (p.R255L)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Arg255Leu (p.R255L) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- ADRENAL INSUFFICIENCY, NR5A1-RELATED
- Source Database
- ClinVar
- Description
- NM_004959.5(NR5A1):c.764G>T (p.Arg255Leu) AND ADRENAL INSUFFICIENCY, NR5A1-RELATED
- ClinVar Allele ID
- 27834
- ClinVar RefSeq Alternation Syntax
- NM_004959.5:c.764G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013639
- ClinVar Disease
- ADRENAL INSUFFICIENCY, NR5A1-RELATED
- Observed Origin Sample
- germline
- Pubmed
- 11038323
Drugs