Variant "IGF1:c.*6433G>C"
Search result: 1 record
Variant information
Gene:
IGF1 
Variant:
IGF1:c.*6433G>C 
Genomic location:
chr12:102789852(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001111284.1:c.*6433G>C
protein_coding NM_000618.4:c.*6433G>C
protein_coding NM_001111283.2:c.*6467G>C
dbSNP ID:
rs5742714  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered life span(1)  
Detail：
  • Target disease:
    Lung Carcinoma (DOID_3905)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered life span 
    Evidence:
    HR=0.58; 95% CI: 0.40-0.85; p for heterogeneity test = 0.045 
    Effect:
    rs5742714 in IGF1 may be a genetic modifier for NSCLC prognosis in this Chinese population
    Reference:
    PMID20145156
    Title:
    A 3'-untranslated region polymorphism in IGF1 predicts survival of non-small cell lung cancer in a Chinese population.
    Species studied:
    Human
    Abstract:
    Disruption of the balance of insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP3) has been implicated in the etiology and progression of lung and other cancers. Single nucleotide polymorphisms (SNP) in IGF1 and IGFBP3 have been reported to be associated with the expression of the IGF-I/IGFBP3 axis. Therefore, we hypothesized that SNPs in these two genes were associated with lung cancer survival.