Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Glu616AspfsTer33 (p.E616Dfs*33)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Glu616AspfsTer33 (p.E616Dfs*33) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg408Ter (p.R408*) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- retinitis pigmentosa 19
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- NA
Drugs