Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Gly111ValfsTer21 (p.G111Vfs*21)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Gly111ValfsTer21 (p.G111Vfs*21) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile237_Met240delinsAsnGluGluLys (p.I237_M240delinsNEEK) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg484ProfsTer58 (p.R484Pfs*58) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile237_Met240delinsAsnGluGluLys (p.I237_M240delinsNEEK) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg484ProfsTer58 (p.R484Pfs*58) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro31Leu (p.P31L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 c.293-13C>A ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 c.293-13C>G ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Lys121Gln (p.K121Q) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile173Asn (p.I173N) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile237Asn (p.I237N) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val238Glu (p.V238E) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Met240Lys (p.M240K) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gly292Ser (p.G292S) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gly292Arg (p.G292R) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg357Trp (p.R357W) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Trp406Ter (p.W406*) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro454Ser (p.P454S) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro31Leu (p.P31L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 c.293-13C>A ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 c.293-13C>G ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Lys121Gln (p.K121Q) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile173Asn (p.I173N) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Ile237Asn (p.I237N) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val238Glu (p.V238E) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Met240Lys (p.M240K) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Met (p.V282M) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Val282Leu (p.V282L) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gly292Ser (p.G292S) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gly292Arg (p.G292R) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Gln319Ter (p.Q319*) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Arg357Trp (p.R357W) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Trp406Ter (p.W406*) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Pro454Ser (p.P454S) ( ENST00000435122.3, ENST00000644719.2 )
CYP21A2 p.Leu308PhefsTer6 (p.L308Ffs*6)
CYP21A2 p.Leu308PhefsTer6 (p.L308Ffs*6) - Associated Disease
- 21-hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.155016001498359
- Year of publication
- NA
Drugs