Variant "FLG:c.1432C>T(p.Pro478Ser)"
Search result: 1 record
Variant information
Gene:
FLG 
Variant:
FLG:c.1432C>T(p.Pro478Ser) 
Genomic location:
chr1:152285930(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002016.1:c.1432C>T(p.Pro478Ser)
pseudogene NR_103778.1:n.-5G>A
dbSNP ID:
rs11584340  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered serologic parameters(1)  
Detail：
  • Target disease:
    Atopic Dermatitis (DOID_3310)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered serologic parameters 
    Evidence:
    P=0.041 
    Effect:
    FLG P478S is a kind of disease modifier which affects serologic parameters such as EDN and ECP.
    Reference:
    PMID29281699
    Title:
    Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
    Species studied:
    Human
    Abstract:
    FLG encodes a large protein called profilaggrin, which plays a key role in maintaining an effective skin barrier against the environment. In this study, we identified FLG single nucleotide variations (FLG-SNVs) and evaluated the association of FLG-SNVs with clinical phenotypes including atopic dermatitis (AD)-associated minor clinical features, presence of specific allergic sensitization, and serum parameters.