Annotation Detail

Information
Associated Genes
NR5A1
Associated Variants
NR5A1 p.Cys16Ter (p.C16*) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Cys16Ter (p.C16*) ( ENST00000373588.9, ENST00000620110.4 )
Associated Disease
46,XY sex reversal 3
Source Database
ClinVar
Description
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) AND 46,XY sex reversal 3
ClinVar Allele ID
27837
ClinVar RefSeq Alternation Syntax
NM_004959.5:c.48C>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2004-10-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000013642
ClinVar Disease
46,XY sex reversal 3
Observed Origin Sample
germline
Pubmed
15472171
Drugs