Annotation Detail
Information
- Associated Genes
- EPG5
- Associated Variants
-
EPG5 p.Arg2078Ter (p.R2078*)
(
ENST00000282041.11,
ENST00000696483.1,
ENST00000696484.1,
ENST00000696489.1,
ENST00000696490.1 )
EPG5 p.Gln1530Ter (p.Q1530*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Arg1161Ter (p.R1161*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Arg1161Gly (p.R1161G) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Glu859Ter (p.E859*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Arg2078Ter (p.R2078*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Gln1530Ter (p.Q1530*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Arg1161Ter (p.R1161*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Arg1161Gly (p.R1161G) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Glu859Ter (p.E859*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 ) - Associated Disease
- Absent corpus callosum cataract immunodeficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- NA
Drugs