Variant "FLG:c.9740C>A(p.Ser3247*)"
Search result: 1 record
Variant information
Gene:
FLG 
Variant:
FLG:c.9740C>A(p.Ser3247*) 
Genomic location:
chr1:152277622(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002016.1:c.9740C>A(p.Ser3247*)
dbSNP ID:
rs150597413  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Irritant Dermatitis (DOID_2772)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.05 
    Effect:
    FLG mutations seem to be a modifier of the severity of the clinical course in ICD.
    Reference:
    PMID22962861
    Title:
    Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy.
    Species studied:
    Human
    Abstract:
    Filaggrin loss-of-function mutations and atopy may alter the clinical course of irritant contact dermatitis (ICD).