Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Leu231_Leu233del (p.L231_L233del)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Asn222LysfsTer74 (p.N222Kfs*74) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Pro131ArgfsTer165 (p.P131Rfs*165) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Leu231_Leu233del (p.L231_L233del) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Asn222LysfsTer74 (p.N222Kfs*74) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Pro131ArgfsTer165 (p.P131Rfs*165) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Asp293Asn (p.D293N) ( ENST00000620110.4, ENST00000373588.9 )
NR5A1 p.Pro129Leu (p.P129L) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly123Ala (p.G123A) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.? (p.?) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Asp293Asn (p.D293N) ( ENST00000620110.4, ENST00000373588.9 )
NR5A1 p.Pro129Leu (p.P129L) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly123Ala (p.G123A) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.? (p.?) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- PREMATURE OVARIAN FAILURE 7 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs