Annotation Detail
Information
- Associated Genes
- TYR
- Associated Variants
-
TYR p.Gly191AspfsTer35 (p.G191Dfs*35)
(
ENST00000263321.6 )
TYR p.Ile194SerfsTer32 (p.I194Sfs*32) ( ENST00000263321.6 )
TYR p.His389ThrfsTer96 (p.H389Tfs*96) ( ENST00000263321.6 )
TYR p.Met426LeufsTer57 (p.M426Lfs*57) ( ENST00000263321.6 )
TYR p.Gly191AspfsTer35 (p.G191Dfs*35) ( ENST00000263321.6 )
TYR p.Ile194SerfsTer32 (p.I194Sfs*32) ( ENST00000263321.6 )
TYR p.His389ThrfsTer96 (p.H389Tfs*96) ( ENST00000263321.6 )
TYR p.Met426LeufsTer57 (p.M426Lfs*57) ( ENST00000263321.6 )
TYR p.? (p.?) ( ENST00000263321.6 )
TYR p.Pro21Ser (p.P21S) ( ENST00000263321.6 )
TYR p.Asp42Gly (p.D42G) ( ENST00000263321.6 )
TYR p.Gly47Ser (p.G47S) ( ENST00000263321.6 )
TYR p.Gly47Asp (p.G47D) ( ENST00000263321.6 )
TYR p.Cys55Tyr (p.C55Y) ( ENST00000263321.6 )
TYR p.Cys55Ser (p.C55S) ( ENST00000263321.6 )
TYR p.Arg77Gln (p.R77Q) ( ENST00000263321.6 )
TYR p.Pro81Leu (p.P81L) ( ENST00000263321.6 )
TYR p.Cys89Arg (p.C89R) ( ENST00000263321.6 )
TYR p.Cys91Tyr (p.C91Y) ( ENST00000263321.6 )
TYR p.Tyr149Cys (p.Y149C) ( ENST00000263321.6 )
TYR p.Trp178Ter (p.W178*) ( ENST00000263321.6 )
TYR p.Ser184Ter (p.S184*) ( ENST00000263321.6 )
TYR p.Ser184Leu (p.S184L) ( ENST00000263321.6 )
TYR p.Ala206Thr (p.A206T) ( ENST00000263321.6 )
TYR p.Leu216Met (p.L216M) ( ENST00000263321.6 )
TYR p.Leu216= (p.L216=) ( ENST00000263321.6 )
TYR p.Arg217Gly (p.R217G) ( ENST00000263321.6 )
TYR p.Arg217Trp (p.R217W) ( ENST00000263321.6 )
TYR p.Arg217Gln (p.R217Q) ( ENST00000263321.6 )
TYR p.Arg217Leu (p.R217L) ( ENST00000263321.6 )
TYR p.Gln220Ter (p.Q220*) ( ENST00000263321.6 )
TYR p.Glu221Lys (p.E221K) ( ENST00000263321.6 )
TYR p.Trp236Ter (p.W236*) ( ENST00000263321.6 )
TYR p.Trp236Ser (p.W236S) ( ENST00000263321.6 )
TYR c.820-3C>G ( ENST00000263321.6 )
TYR p.Val275Phe (p.V275F) ( ENST00000263321.6 )
TYR p.Arg299His (p.R299H) ( ENST00000263321.6 )
TYR p.Glu328Gln (p.E328Q) ( ENST00000263321.6 )
TYR c.1037-7T>A ( ENST00000263321.6 )
TYR c.1037-7T>C ( ENST00000263321.6 )
TYR p.Ala355Gly (p.A355G) ( ENST00000263321.6 )
TYR p.Ala355Val (p.A355V) ( ENST00000263321.6 )
TYR p.Asn371Thr (p.N371T) ( ENST00000263321.6 )
TYR p.Thr373Lys (p.T373K) ( ENST00000263321.6 )
TYR p.Asn382Lys (p.N382K) ( ENST00000263321.6 )
TYR p.Asn382= (p.N382=) ( ENST00000263321.6 )
TYR p.Asp383Asn (p.D383N) ( ENST00000263321.6 )
TYR p.Arg402Ter (p.R402*) ( ENST00000263321.6 )
TYR p.Arg403Ser (p.R403S) ( ENST00000263321.6 )
TYR p.Pro412Ala (p.P412A) ( ENST00000263321.6 )
TYR p.Gly419Arg (p.G419R) ( ENST00000263321.6 )
TYR p.Gly446Ser (p.G446S) ( ENST00000263321.6 )
TYR p.Asp448Asn (p.D448N) ( ENST00000263321.6 )
TYR p.Asp448His (p.D448H) ( ENST00000263321.6 )
TYR p.? (p.?) ( ENST00000263321.6 )
TYR p.Pro21Ser (p.P21S) ( ENST00000263321.6 )
TYR p.Asp42Gly (p.D42G) ( ENST00000263321.6 )
TYR p.Gly47Ser (p.G47S) ( ENST00000263321.6 )
TYR p.Gly47Asp (p.G47D) ( ENST00000263321.6 )
TYR p.Cys55Tyr (p.C55Y) ( ENST00000263321.6 )
TYR p.Cys55Ser (p.C55S) ( ENST00000263321.6 )
TYR p.Arg77Gln (p.R77Q) ( ENST00000263321.6 )
TYR p.Pro81Leu (p.P81L) ( ENST00000263321.6 )
TYR p.Cys89Arg (p.C89R) ( ENST00000263321.6 )
TYR p.Cys91Tyr (p.C91Y) ( ENST00000263321.6 )
TYR p.Tyr149Cys (p.Y149C) ( ENST00000263321.6 )
TYR p.Trp178Ter (p.W178*) ( ENST00000263321.6 )
TYR p.Ser184Ter (p.S184*) ( ENST00000263321.6 )
TYR p.Ser184Leu (p.S184L) ( ENST00000263321.6 )
TYR p.Ala206Thr (p.A206T) ( ENST00000263321.6 )
TYR p.Leu216Met (p.L216M) ( ENST00000263321.6 )
TYR p.Leu216= (p.L216=) ( ENST00000263321.6 )
TYR p.Arg217Gly (p.R217G) ( ENST00000263321.6 )
TYR p.Arg217Trp (p.R217W) ( ENST00000263321.6 )
TYR p.Arg217Gln (p.R217Q) ( ENST00000263321.6 )
TYR p.Arg217Leu (p.R217L) ( ENST00000263321.6 )
TYR p.Gln220Ter (p.Q220*) ( ENST00000263321.6 )
TYR p.Glu221Lys (p.E221K) ( ENST00000263321.6 )
TYR p.Trp236Ter (p.W236*) ( ENST00000263321.6 )
TYR p.Trp236Ser (p.W236S) ( ENST00000263321.6 )
TYR c.820-3C>G ( ENST00000263321.6 )
TYR p.Val275Phe (p.V275F) ( ENST00000263321.6 )
TYR p.Arg299His (p.R299H) ( ENST00000263321.6 )
TYR p.Glu328Gln (p.E328Q) ( ENST00000263321.6 )
TYR c.1037-7T>A ( ENST00000263321.6 )
TYR c.1037-7T>C ( ENST00000263321.6 )
TYR p.Ala355Gly (p.A355G) ( ENST00000263321.6 )
TYR p.Ala355Val (p.A355V) ( ENST00000263321.6 )
TYR p.Asn371Thr (p.N371T) ( ENST00000263321.6 )
TYR p.Thr373Lys (p.T373K) ( ENST00000263321.6 )
TYR p.Asn382Lys (p.N382K) ( ENST00000263321.6 )
TYR p.Asn382= (p.N382=) ( ENST00000263321.6 )
TYR p.Asp383Asn (p.D383N) ( ENST00000263321.6 )
TYR p.Arg402Ter (p.R402*) ( ENST00000263321.6 )
TYR p.Arg403Ser (p.R403S) ( ENST00000263321.6 )
TYR p.Pro412Ala (p.P412A) ( ENST00000263321.6 )
TYR p.Gly419Arg (p.G419R) ( ENST00000263321.6 )
TYR p.Gly446Ser (p.G446S) ( ENST00000263321.6 )
TYR p.Asp448Asn (p.D448N) ( ENST00000263321.6 )
TYR p.Asp448His (p.D448H) ( ENST00000263321.6 )
TYR p.Met96AsnfsTer73 (p.M96Nfs*73)
TYR p.Lys243_Cys244insThrTrpGlu (p.K243_C244insTWE)
TYR p.Asp245ValfsTer75 (p.D245Vfs*75)
TYR p.Arg311LysfsTer7 (p.R311Kfs*7)
TYR p.Ala490CysfsTer20 (p.A490Cfs*20)
TYR p.Arg501ProfsTer9 (p.R501Pfs*9)
TYR p.Met96AsnfsTer73 (p.M96Nfs*73)
TYR p.Lys243_Cys244insThrTrpGlu (p.K243_C244insTWE)
TYR p.Asp245ValfsTer75 (p.D245Vfs*75)
TYR p.Arg311LysfsTer7 (p.R311Kfs*7)
TYR p.Ala490CysfsTer20 (p.A490Cfs*20)
TYR p.Arg501ProfsTer9 (p.R501Pfs*9) - Associated Disease
- Oculocutaneous albinism type 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.573300651731935
- Year of publication
- NA
Drugs