Variant "IL4I1:c.383C>T(p.Thr128Met)"
Search result: 1 record
Variant information
Gene:
IL4I1 
Variant:
IL4I1:c.383C>T(p.Thr128Met) 
Genomic location:
chr19:50398373(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001258017.1:c.383C>T(p.Thr128Met)
protein_coding NM_001258018.1:c.383C>T(p.Thr128Met)
protein_coding NM_172374.2:c.383C>T(p.Thr128Met)
protein_coding NM_152899.1:c.317C>T(p.Thr106Met)
pseudogene NR_047577.1:n.981C>T
dbSNP ID:
rs147320311  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • 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.