Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Gly1578Arg (p.G1578R)
(
ENST00000370225.4 )
ABCA4 p.Arg1517Cys (p.R1517C) ( ENST00000370225.4 )
ABCA4 p.Arg1517Ser (p.R1517S) ( ENST00000370225.4 )
ABCA4 p.Thr1428Met (p.T1428M) ( ENST00000370225.4 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Gly1578Arg (p.G1578R) ( ENST00000370225.4 )
ABCA4 p.Arg1517Cys (p.R1517C) ( ENST00000370225.4 )
ABCA4 p.Arg1517Ser (p.R1517S) ( ENST00000370225.4 )
ABCA4 p.Thr1428Met (p.T1428M) ( ENST00000370225.4 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Macular Degeneration, Age-Related, 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs