Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2149Ter (p.R2149*)
(
ENST00000370225.4 )
ABCA4 p.Val2050Leu (p.V2050L) ( ENST00000370225.4 )
ABCA4 p.Arg2030Gln (p.R2030Q) ( ENST00000370225.4 )
ABCA4 p.Leu2027Phe (p.L2027F) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.Leu1940Pro (p.L1940P) ( ENST00000370225.4 )
ABCA4 c.5461-10T>C ( ENST00000370225.4 )
ABCA4 p.Pro1780Ala (p.P1780A) ( ENST00000370225.4 )
ABCA4 p.Ala1762Asp (p.A1762D) ( ENST00000370225.4 )
ABCA4 p.Val1693Ile (p.V1693I) ( ENST00000370225.4 )
ABCA4 p.Asp1532Asn (p.D1532N) ( ENST00000370225.4 )
ABCA4 p.Thr1526Met (p.T1526M) ( ENST00000370225.4 )
ABCA4 c.4540-2A>G ( ENST00000370225.4 )
ABCA4 p.Cys1490Tyr (p.C1490Y) ( ENST00000370225.4 )
ABCA4 p.Gln1477Ter (p.Q1477*) ( ENST00000370225.4 )
ABCA4 p.Glu1399Ter (p.E1399*) ( ENST00000370225.4 )
ABCA4 p.Glu1399Lys (p.E1399K) ( ENST00000370225.4 )
ABCA4 p.Pro1380Leu (p.P1380L) ( ENST00000370225.4 )
ABCA4 p.Glu1122Lys (p.E1122K) ( ENST00000370225.4 )
ABCA4 p.Arg1108Cys (p.R1108C) ( ENST00000370225.4 )
ABCA4 p.Ser1071Leu (p.S1071L) ( ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 )
ABCA4 p.Glu1036Lys (p.E1036K) ( ENST00000370225.4 )
ABCA4 p.Ala1028Val (p.A1028V) ( ENST00000370225.4 )
ABCA4 p.Arg943Leu (p.R943L) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg943Gln (p.R943Q) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Asn933Ile (p.N933I) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Val931Met (p.V931M) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Trp855Ter (p.W855*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Phe655Cys (p.F655C) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 c.1760+2T>G ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg572Pro (p.R572P) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg572Gln (p.R572Q) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Leu541Pro (p.L541P) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Tyr340Asp (p.Y340D) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Gln294Ter (p.Q294*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg212Cys (p.R212C) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Ala192Thr (p.A192T) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gly65Val (p.G65V) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gly65Glu (p.G65E) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Cys54Phe (p.C54F) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Cys54Tyr (p.C54Y) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg24His (p.R24H) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 c.67-2A>G ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg18Trp (p.R18W) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg18= (p.R18=) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg2149Ter (p.R2149*) ( ENST00000370225.4 )
ABCA4 p.Val2050Leu (p.V2050L) ( ENST00000370225.4 )
ABCA4 p.Arg2030Gln (p.R2030Q) ( ENST00000370225.4 )
ABCA4 p.Leu2027Phe (p.L2027F) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.Leu1940Pro (p.L1940P) ( ENST00000370225.4 )
ABCA4 c.5461-10T>C ( ENST00000370225.4 )
ABCA4 p.Pro1780Ala (p.P1780A) ( ENST00000370225.4 )
ABCA4 p.Ala1762Asp (p.A1762D) ( ENST00000370225.4 )
ABCA4 p.Val1693Ile (p.V1693I) ( ENST00000370225.4 )
ABCA4 p.Asp1532Asn (p.D1532N) ( ENST00000370225.4 )
ABCA4 p.Thr1526Met (p.T1526M) ( ENST00000370225.4 )
ABCA4 c.4540-2A>G ( ENST00000370225.4 )
ABCA4 p.Cys1490Tyr (p.C1490Y) ( ENST00000370225.4 )
ABCA4 p.Gln1477Ter (p.Q1477*) ( ENST00000370225.4 )
ABCA4 p.Glu1399Ter (p.E1399*) ( ENST00000370225.4 )
ABCA4 p.Glu1399Lys (p.E1399K) ( ENST00000370225.4 )
ABCA4 p.Pro1380Leu (p.P1380L) ( ENST00000370225.4 )
ABCA4 p.Glu1122Lys (p.E1122K) ( ENST00000370225.4 )
ABCA4 p.Arg1108Cys (p.R1108C) ( ENST00000370225.4 )
ABCA4 p.Ser1071Leu (p.S1071L) ( ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 )
ABCA4 p.Glu1036Lys (p.E1036K) ( ENST00000370225.4 )
ABCA4 p.Ala1028Val (p.A1028V) ( ENST00000370225.4 )
ABCA4 p.Arg943Leu (p.R943L) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg943Gln (p.R943Q) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Asn933Ile (p.N933I) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Val931Met (p.V931M) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Trp855Ter (p.W855*) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Phe655Cys (p.F655C) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 c.1760+2T>G ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg572Pro (p.R572P) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg572Gln (p.R572Q) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Leu541Pro (p.L541P) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Tyr340Asp (p.Y340D) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gln294Ter (p.Q294*) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg212Cys (p.R212C) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Ala192Thr (p.A192T) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gly65Val (p.G65V) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Gly65Glu (p.G65E) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Cys54Phe (p.C54F) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Cys54Tyr (p.C54Y) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg24His (p.R24H) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 c.67-2A>G ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg18Trp (p.R18W) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg18= (p.R18=) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Ser1071CysfsTer14 (p.S1071Cfs*14)
ABCA4 p.Ser1071CysfsTer14 (p.S1071Cfs*14) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- NA
Drugs