Variant "TLR3:c.1234C>T(p.Leu412Phe)"
Search result: 1 record
Variant information
Gene:
TLR3 
Variant:
TLR3:c.1234C>T(p.Leu412Phe) 
Genomic location:
chr4:187004074(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003265.2:c.1234C>T(p.Leu412Phe)
protein_coding 1ZIW:A_412-A_437:NM_003265.2:c.1234C>T
dbSNP ID:
rs3775291  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Idiopathic Pulmonary Fibrosis (DOID_0050156)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Gene activity study 
    Effect:
    TLR3 L412F was also associated with a significantly greater risk of mortality and an accelerated decline in FVC in patients with IPF.
    Reference:
    PMID24070541
    Title:
    The Toll-like receptor 3 L412F polymorphism and disease progression in idiopathic pulmonary fibrosis.
    Species studied:
    Human
    Abstract:
    Idiopathic pulmonary fibrosis (IPF) is a fatal progressive interstitial pneumonia. The innate immune system provides a crucial function in the recognition of tissue injury and infection. Toll-like receptor 3 (TLR3) is an innate immune system receptor. We investigated the role of a functional TLR3 single-nucleotide polymorphism in IPF.