Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ser1181ProfsTer10 (p.S1181Pfs*10)
(
ENST00000370225.4 )
ABCA4 p.Gly963AlafsTer14 (p.G963Afs*14) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Phe873SerfsTer11 (p.F873Sfs*11) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Ser1181ProfsTer10 (p.S1181Pfs*10) ( ENST00000370225.4 )
ABCA4 p.Gly963AlafsTer14 (p.G963Afs*14) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Phe873SerfsTer11 (p.F873Sfs*11) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Leu2027Phe (p.L2027F) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.Leu1940Pro (p.L1940P) ( ENST00000370225.4 )
ABCA4 p.Ala1762Asp (p.A1762D) ( ENST00000370225.4 )
ABCA4 p.Leu1201Arg (p.L1201R) ( ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Phe655Cys (p.F655C) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Leu541Pro (p.L541P) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Gln294Ter (p.Q294*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg255Cys (p.R255C) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg255Gly (p.R255G) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg212Cys (p.R212C) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Leu2027Phe (p.L2027F) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.Leu1940Pro (p.L1940P) ( ENST00000370225.4 )
ABCA4 p.Ala1762Asp (p.A1762D) ( ENST00000370225.4 )
ABCA4 p.Leu1201Arg (p.L1201R) ( ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Phe655Cys (p.F655C) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Leu541Pro (p.L541P) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gln294Ter (p.Q294*) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg255Cys (p.R255C) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg255Gly (p.R255G) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg212Cys (p.R212C) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- CONE-ROD DYSTROPHY 3 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs