Variant "BAX:c.-248A>G"
Search result: 1 record
Variant information
Gene:
BAX 
Variant:
BAX:c.-248A>G 
Genomic location:
chr19:49457938(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001291428.1:c.-248A>G
protein_coding NM_001291429.1:c.-1031A>G
protein_coding NM_001291430.1:c.-1518A>G
protein_coding NM_004324.3:c.-248A>G
protein_coding NM_001291431.1:c.-1518A>G
protein_coding NM_138761.3:c.-248A>G
protein_coding NM_138763.3:c.-248A>G
protein_coding NM_138764.4:c.-248A>G
pseudogene NR_027882.1:n.-179A>G
DHDH-BAX:n.49457938A>G
show all
dbSNP ID:
rs4645878  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Ovarian Cancer (DOID_2394)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=4.1, 95 % CI: 1.23-13.97 
    Effect:
    That polymorphism of BAX and TP53 genes may be potential genetic modifiers for developing ovarian cancer.
    Reference:
    PMID26209050
    Title:
    Potential impact of (rs 4645878) BAX promoter -248G>A and (rs 1042522) TP53 72Arg>pro polymorphisms on epithelial ovarian cancer patients.
    Species studied:
    Human
    Abstract:
    In India, Epithelial ovarian cancer has emerged as one of the most common malignancies affecting women. Tumor protein 53 (TP53) induces expression of the B cell lymphoma 2-associated X protein (BAX) gene by directly binding to the TP53-binding element in the BAX promoter. Therefore, we hypothesized that single-nucleotide polymorphism of BAX promoter -248G>A and TP53 72Arg>Pro gene may jointly contribute to ovarian cancer risk.