Variant "IKBIP:c.1088T-C(p.L363S)"
Search result: 1 record
Variant information
Gene:
IKBIP 
Variant:
IKBIP:c.1088T-C(p.L363S) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered gene activity(1)  
Detail：
  • 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