Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 p.Ter476Glnext*? (p.*476Qext*?)
(
ENST00000355527.8,
ENST00000527316.6,
ENST00000407721.6,
ENST00000526780.6,
ENST00000682708.1,
ENST00000683287.1,
ENST00000683714.1,
ENST00000685320.1 )
DHCR7 p.Glu448Lys (p.E448K) ( ENST00000685320.1, ENST00000683714.1, ENST00000682708.1, ENST00000526780.6, ENST00000355527.8, ENST00000683287.1, ENST00000407721.6, ENST00000527316.6 )
DHCR7 p.Gly410Ser (p.G410S) ( ENST00000682708.1, ENST00000683714.1, ENST00000685320.1, ENST00000527316.6, ENST00000407721.6, ENST00000355527.8, ENST00000683287.1, ENST00000526780.6 )
DHCR7 p.Arg404Cys (p.R404C) ( ENST00000685320.1, ENST00000682708.1, ENST00000683714.1, ENST00000526780.6, ENST00000407721.6, ENST00000527316.6, ENST00000355527.8, ENST00000683287.1 )
DHCR7 p.Cys380Phe (p.C380F) ( ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000683287.1, ENST00000355527.8, ENST00000527316.6, ENST00000407721.6, ENST00000526780.6 )
DHCR7 p.Cys380Tyr (p.C380Y) ( ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000355527.8, ENST00000683287.1, ENST00000407721.6, ENST00000527316.6, ENST00000526780.6 )
DHCR7 p.Arg352Leu (p.R352L) ( ENST00000685320.1, ENST00000682708.1, ENST00000683714.1, ENST00000526780.6, ENST00000527316.6, ENST00000407721.6, ENST00000355527.8, ENST00000683287.1 )
DHCR7 p.Arg352Gln (p.R352Q) ( ENST00000526780.6, ENST00000527316.6, ENST00000407721.6, ENST00000683287.1, ENST00000355527.8, ENST00000685320.1, ENST00000682708.1, ENST00000683714.1 )
DHCR7 p.Arg352Trp (p.R352W) ( ENST00000685320.1, ENST00000682708.1, ENST00000683714.1, ENST00000526780.6, ENST00000527316.6, ENST00000407721.6, ENST00000683287.1, ENST00000355527.8 )
DHCR7 p.Val326Leu (p.V326L) ( ENST00000683287.1, ENST00000355527.8, ENST00000407721.6, ENST00000527316.6, ENST00000526780.6, ENST00000683714.1, ENST00000682708.1, ENST00000685320.1 )
DHCR7 c.964-1G>T ( ENST00000407721.6, ENST00000527316.6, ENST00000355527.8, ENST00000683287.1, ENST00000526780.6, ENST00000682708.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 c.964-1G>C ( ENST00000683287.1, ENST00000355527.8, ENST00000527316.6, ENST00000407721.6, ENST00000526780.6, ENST00000683714.1, ENST00000682708.1, ENST00000685320.1 )
DHCR7 p.Gly303Trp (p.G303W) ( ENST00000355527.8, ENST00000527316.6, ENST00000407721.6, ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000683287.1, ENST00000682880.1, ENST00000526780.6 )
DHCR7 p.Gly303Arg (p.G303R) ( ENST00000355527.8, ENST00000407721.6, ENST00000527316.6, ENST00000526780.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Phe302= (p.F302=) ( ENST00000682880.1, ENST00000526780.6, ENST00000683287.1, ENST00000355527.8, ENST00000527316.6, ENST00000407721.6, ENST00000685320.1, ENST00000683714.1, ENST00000682708.1 )
DHCR7 p.Phe302Leu (p.F302L) ( ENST00000685320.1, ENST00000682708.1, ENST00000683714.1, ENST00000526780.6, ENST00000682880.1, ENST00000407721.6, ENST00000527316.6, ENST00000683287.1, ENST00000355527.8 )
DHCR7 p.Thr289Ile (p.T289I) ( ENST00000685320.1, ENST00000683714.1, ENST00000682708.1, ENST00000682880.1, ENST00000526780.6, ENST00000683287.1, ENST00000355527.8, ENST00000527316.6, ENST00000407721.6 )
DHCR7 p.Val281Met (p.V281M) ( ENST00000682708.1, ENST00000683714.1, ENST00000685320.1, ENST00000407721.6, ENST00000527316.6, ENST00000683287.1, ENST00000355527.8, ENST00000526780.6, ENST00000682880.1 )
DHCR7 p.Tyr280Cys (p.Y280C) ( ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000683287.1, ENST00000355527.8, ENST00000527316.6, ENST00000407721.6, ENST00000682880.1, ENST00000526780.6 )
DHCR7 c.832-1G>C ( ENST00000685320.1, ENST00000683714.1, ENST00000682708.1, ENST00000682880.1, ENST00000526780.6, ENST00000355527.8, ENST00000683287.1, ENST00000407721.6, ENST00000527316.6 )
DHCR7 p.Trp248Cys (p.W248C) ( ENST00000685320.1, ENST00000682708.1, ENST00000683714.1, ENST00000526780.6, ENST00000682880.1, ENST00000407721.6, ENST00000527316.6, ENST00000683287.1, ENST00000355527.8 )
DHCR7 p.Gly244Arg (p.G244R) ( ENST00000682708.1, ENST00000683714.1, ENST00000685320.1, ENST00000407721.6, ENST00000527316.6, ENST00000683287.1, ENST00000355527.8, ENST00000526780.6, ENST00000682880.1 )
DHCR7 p.Arg242His (p.R242H) ( ENST00000682880.1, ENST00000527316.6, ENST00000526780.6, ENST00000407721.6, ENST00000355527.8, ENST00000683287.1, ENST00000685320.1, ENST00000683714.1, ENST00000682708.1 )
DHCR7 p.Arg242Cys (p.R242C) ( ENST00000682880.1, ENST00000407721.6, ENST00000527316.6, ENST00000355527.8, ENST00000683287.1, ENST00000526780.6, ENST00000682708.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Ser169Leu (p.S169L) ( ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000683287.1, ENST00000355527.8, ENST00000527316.6, ENST00000407721.6, ENST00000682880.1, ENST00000526780.6 )
DHCR7 p.Ser169Trp (p.S169W) ( ENST00000527316.6, ENST00000407721.6, ENST00000355527.8, ENST00000683287.1, ENST00000526780.6, ENST00000682880.1, ENST00000682708.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Thr154Met (p.T154M) ( ENST00000685320.1, ENST00000683714.1, ENST00000682708.1, ENST00000682880.1, ENST00000526780.6, ENST00000355527.8, ENST00000683287.1, ENST00000407721.6, ENST00000527316.6 )
DHCR7 p.Thr154Arg (p.T154R) ( ENST00000683287.1, ENST00000355527.8, ENST00000407721.6, ENST00000527316.6, ENST00000682880.1, ENST00000526780.6, ENST00000683714.1, ENST00000682708.1, ENST00000685320.1 )
DHCR7 p.Trp151Ter (p.W151*) ( ENST00000526780.6, ENST00000682880.1, ENST00000407721.6, ENST00000527316.6, ENST00000683287.1, ENST00000355527.8, ENST00000685320.1, ENST00000682708.1, ENST00000683714.1 )
DHCR7 p.Trp151Ser (p.W151S) ( ENST00000355527.8, ENST00000683287.1, ENST00000407721.6, ENST00000527316.6, ENST00000682880.1, ENST00000526780.6, ENST00000683714.1, ENST00000682708.1, ENST00000685320.1 )
DHCR7 p.Trp151Ter (p.W151*) ( ENST00000685320.1, ENST00000683714.1, ENST00000682708.1, ENST00000682880.1, ENST00000526780.6, ENST00000683287.1, ENST00000355527.8, ENST00000407721.6, ENST00000527316.6 )
DHCR7 c.412+3A>T ( ENST00000682708.1, ENST00000683714.1, ENST00000685320.1, ENST00000407721.6, ENST00000527316.6, ENST00000355527.8, ENST00000683287.1, ENST00000526780.6, ENST00000682880.1 )
DHCR7 p.His119Leu (p.H119L) ( ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000355527.8, ENST00000683287.1, ENST00000527316.6, ENST00000407721.6, ENST00000682880.1, ENST00000526780.6 )
DHCR7 p.Gln98Ter (p.Q98*) ( ENST00000407721.6, ENST00000527316.6, ENST00000683287.1, ENST00000355527.8, ENST00000526780.6, ENST00000682880.1, ENST00000682708.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Thr93Met (p.T93M) ( ENST00000682880.1, ENST00000526780.6, ENST00000683287.1, ENST00000355527.8, ENST00000527316.6, ENST00000407721.6, ENST00000685320.1, ENST00000683714.1, ENST00000682708.1 )
DHCR7 p.Pro51Ser (p.P51S) ( ENST00000682880.1, ENST00000526780.6, ENST00000355527.8, ENST00000683287.1, ENST00000407721.6, ENST00000527316.6, ENST00000685320.1, ENST00000683714.1, ENST00000682708.1 )
DHCR7 p.Trp37Ter (p.W37*) ( ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000355527.8, ENST00000683287.1, ENST00000407721.6, ENST00000527316.6, ENST00000682880.1, ENST00000526780.6 )
DHCR7 p.? (p.?) ( ENST00000407721.6, ENST00000527316.6, ENST00000355527.8, ENST00000683287.1, ENST00000526780.6, ENST00000682880.1, ENST00000682708.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.? (p.?) ( ENST00000407721.6, ENST00000527316.6, ENST00000683287.1, ENST00000355527.8, ENST00000526780.6, ENST00000682880.1, ENST00000682708.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Ter476Glnext*? (p.*476Qext*?) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Glu448Lys (p.E448K) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Gly410Ser (p.G410S) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Arg404Cys (p.R404C) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Cys380Phe (p.C380F) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Cys380Tyr (p.C380Y) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Arg352Leu (p.R352L) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Arg352Gln (p.R352Q) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Arg352Trp (p.R352W) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Val326Leu (p.V326L) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 c.964-1G>T ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 c.964-1G>C ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1, ENST00000682708.1, ENST00000527316.6 )
DHCR7 p.Gly303Trp (p.G303W) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Gly303Arg (p.G303R) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Phe302= (p.F302=) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Phe302Leu (p.F302L) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Thr289Ile (p.T289I) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Val281Met (p.V281M) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Tyr280Cys (p.Y280C) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 c.832-1G>C ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Trp248Cys (p.W248C) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Gly244Arg (p.G244R) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Arg242His (p.R242H) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Arg242Cys (p.R242C) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Ser169Leu (p.S169L) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Ser169Trp (p.S169W) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Thr154Met (p.T154M) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Thr154Arg (p.T154R) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Trp151Ter (p.W151*) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Trp151Ser (p.W151S) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Trp151Ter (p.W151*) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 c.412+3A>T ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.His119Leu (p.H119L) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Gln98Ter (p.Q98*) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Thr93Met (p.T93M) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Pro51Ser (p.P51S) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.Trp37Ter (p.W37*) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.? (p.?) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 )
DHCR7 p.? (p.?) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 ) - Associated Disease
- Smith-Lemli-Opitz syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.610363549988277
- Year of publication
- NA
Drugs