Gene "IKBKE"
Found 1 record
Gene information
Gene symbol:
IKBKE
See related:
Ensembl: ENSG00000263528, Gene ID: 9641
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered gene activity(1)  
Detail：
  • Variant 1:
    IKBKE:c.148G-A(p.E50K)
    Gene:
    IKBKE
    Genomic location:
    dbSNP ID:
    Target disease:
    Autoimmune lymphoproliferative syndrome(DOID_6688)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered gene activity 
    Evidence:
    Gene activity study 
    Effect:
    Though further investigation is needed to determine whether these variants modify the patient’s condition, it is unlikely that they cause disease by themselves since they were inherited from the unaffected father.
    Reference:
    PMID29305315
    Title:
    RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias
    Species studied:
    Human
    Abstract:
    No data