Annotation Detail
Information
- Associated Genes
- EYS
- Associated Variants
-
EYS p.Asn2565MetfsTer52 (p.N2565Mfs*52)
(
ENST00000503581.6,
ENST00000370621.7 )
EYS p.Cys2350AlafsTer97 (p.C2350Afs*97) ( ENST00000503581.6, ENST00000370621.7 )
EYS p.Phe1735GlnfsTer6 (p.F1735Qfs*6) ( ENST00000503581.6, ENST00000370621.7 )
EYS p.Arg1463GlyfsTer15 (p.R1463Gfs*15) ( ENST00000503581.6, ENST00000370621.7 )
EYS p.Asn2565MetfsTer52 (p.N2565Mfs*52) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Cys2350AlafsTer97 (p.C2350Afs*97) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Phe1735GlnfsTer6 (p.F1735Qfs*6) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Arg1463GlyfsTer15 (p.R1463Gfs*15) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Ile3091Thr (p.I3091T), PHF3 c.*7114A>G ( ENST00000370621.7, ENST00000503581.6, ENST00000262043.8 )
EYS p.Tyr2956Ter (p.Y2956*), PHF3 c.*7518G>T ( ENST00000503581.6, ENST00000370621.7, ENST00000262043.8 )
EYS p.Leu2671Ter (p.L2671*) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Trp2640Ter (p.W2640*) ( ENST00000503581.6, ENST00000370621.7 )
EYS p.Gly2598Asp (p.G2598D) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Gly2186Ala (p.G2186A) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Gly2186Glu (p.G2186E) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Gln1672Ter (p.Q1672*) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Glu584Ter (p.E584*) ( ENST00000370621.7, ENST00000342421.9, ENST00000393380.6, ENST00000503581.6 )
EYS p.Glu584Lys (p.E584K) ( ENST00000342421.9, ENST00000370621.7, ENST00000393380.6, ENST00000503581.6 )
EYS p.Lys449Ter (p.K449*) ( ENST00000370621.7, ENST00000342421.9, ENST00000393380.6, ENST00000503581.6 )
EYS p.Ile3091Thr (p.I3091T), PHF3 c.*7114A>G ( ENST00000262043.8, ENST00000370621.7, ENST00000503581.6 )
EYS p.Tyr2956Ter (p.Y2956*), PHF3 c.*7518G>T ( ENST00000262043.8, ENST00000370621.7, ENST00000503581.6 )
EYS p.Leu2671Ter (p.L2671*) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Trp2640Ter (p.W2640*) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Gly2598Asp (p.G2598D) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Gly2186Ala (p.G2186A) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Gly2186Glu (p.G2186E) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Gln1672Ter (p.Q1672*) ( ENST00000370621.7, ENST00000503581.6 )
EYS p.Glu584Ter (p.E584*) ( ENST00000342421.9, ENST00000370621.7, ENST00000393380.6, ENST00000503581.6 )
EYS p.Glu584Lys (p.E584K) ( ENST00000342421.9, ENST00000370621.7, ENST00000393380.6, ENST00000503581.6 )
EYS p.Lys449Ter (p.K449*) ( ENST00000342421.9, ENST00000370621.7, ENST00000393380.6, ENST00000503581.6 )
EYS p.Glu2815ValfsTer19 (p.E2815Vfs*19), PHF3 c.*7942_*7943insTGCA
EYS p.Ser1653ArgfsTer2 (p.S1653Rfs*2)
EYS p.Ile1469GlnfsTer12 (p.I1469Qfs*12)
EYS p.Glu2815ValfsTer19 (p.E2815Vfs*19), PHF3 c.*7942_*7943insTGCA
EYS p.Ser1653ArgfsTer2 (p.S1653Rfs*2)
EYS p.Ile1469GlnfsTer12 (p.I1469Qfs*12) - Associated Disease
- retinitis pigmentosa
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.369987267440179
- Year of publication
- NA
Drugs