Variant "MUC5B:c.-3133G>T"
Search result: 1 record
Variant information
Gene:
MUC5B 
Variant:
MUC5B:c.-3133G>T 
Genomic location:
chr11:1241221(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_002458.2:c.-3133G>T
MUC5AC-MUC5B:n.1241221G>T
dbSNP ID:
rs35705950  
GWAS trait:
idiopathic pulmonary fibrosis 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered life span(1)  
Detail：
  • Target disease:
    Idiopathic Pulmonary Fibrosis (DOID_0050156)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered life span 
    Evidence:
    Pedigree analysis 
    Effect:
    rs35705950 was recently associated with improved survival in an idiopathic pulmonary fibrosis (IPF) patients
    Reference:
    PMID23695349
    Title:
    Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis.
    Species studied:
    Human
    Abstract:
    Current prediction models of mortality in idiopathic pulmonary fibrosis (IPF), which are based on clinical and physiological parameters, have modest value in predicting which patients will progress. In addition to the potential for improving prognostic models, identifying genetic and molecular features that are associated with IPF mortality may provide insight into the underlying mechanisms of disease and inform clinical trials.