Gene "IL4I1"
Found 1 record
Gene information
Gene symbol:
IL4I1
See related:
Ensembl: ENSG00000104951, Gene ID: 259307
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Variant 1:
    IL4I1:c.383C>T(p.Thr128Met)
    Gene:
    IL4I1
    Genomic location:
    chr19:50398373
    dbSNP ID:
    rs147320311
    Target disease:
    Neural Tube Defects, Susceptibility To(OMIM_182940)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    Contribute to the disease development.
    Reference:
    PMID28721594
    Title:
    Exome analysis in an Estonian multiplex family with neural tube defects-a case report.
    Species studied:
    Human
    Abstract:
    Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits.