Annotation Detail
Information
- Associated Genes
- NR5A1
- Associated Variants
-
NR5A1 p.Asn222LysfsTer74 (p.N222Kfs*74)
(
ENST00000373588.9,
ENST00000620110.4 )
NR5A1 p.Pro131ArgfsTer165 (p.P131Rfs*165) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Asp6GlufsTer69 (p.D6Efs*69) ( 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.Asp6GlufsTer69 (p.D6Efs*69) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly35Glu (p.G35E) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly35Glu (p.G35E) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Leu437Gln (p.L437Q) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Asp293Asn (p.D293N) ( ENST00000620110.4, ENST00000373588.9 )
NR5A1 p.Arg92Gln (p.R92Q) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly91Ser (p.G91S) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Met78Ile (p.M78I) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Glu51Lys (p.E51K) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Cys16= (p.C16=) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Cys16Ter (p.C16*) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Val15Met (p.V15M) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.? (p.?) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Leu437Gln (p.L437Q) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Asp293Asn (p.D293N) ( ENST00000620110.4, ENST00000373588.9 )
NR5A1 p.Arg92Gln (p.R92Q) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Gly91Ser (p.G91S) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Met78Ile (p.M78I) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Glu51Lys (p.E51K) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Cys16= (p.C16=) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Cys16Ter (p.C16*) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.Val15Met (p.V15M) ( ENST00000373588.9, ENST00000620110.4 )
NR5A1 p.? (p.?) ( ENST00000373588.9, ENST00000620110.4 ) - Associated Disease
- 46, XY Disorders of Sex Development
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.246243163057847
- Year of publication
- NA
Drugs