Variant "TP73:n.*4203C>T"
Search result: 1 record
Variant information
Gene:
TP73 
Variant:
TP73:n.*4203C>T 
Genomic location:
chr1:3648345(hg19) 
HGVS:
SO Term RefSeq
pseudogene NR_033711.1:n.*4203C>T
pseudogene NR_033712.1:n.*4203C>T
pseudogene NR_033708.1:n.*4203C>T
pseudogene NR_033709.1:n.*4203C>T
pseudogene NR_033710.1:n.*4203C>T
protein_coding NM_005427.3:c.1578+225G>A
protein_coding NM_001204184.1:c.1484+716G>A
protein_coding NM_001204185.1:c.*1+225G>A
protein_coding NM_001204186.1:c.1197-966G>A
protein_coding NM_001204187.1:c.1335+716G>A
protein_coding NM_001204188.1:c.1290+225G>A
protein_coding NM_001126240.2:c.1431+225G>A
protein_coding NM_001126241.2:c.1337+716G>A
protein_coding NM_001126242.2:c.*1+225G>A
protein_coding NM_001204189.1:c.1050-966G>A
protein_coding NM_001204190.1:c.1188+716G>A
protein_coding NM_001204191.1:c.1143+225G>A
protein_coding NM_001204192.1:c.1365+225G>A
show all
dbSNP ID:
rs6695978  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility(1)  
Detail：
  • Target disease:
    Ovarian Cancer (DOID_2394)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    OR=1.55; 95% CI:1.07-2.19; P=0.003 
    Effect:
    The p73 rs6695978 G>A polymorphism will serve as a modifier of ovarian cancer susceptibility and prognosis.
    Reference:
    PMID23095717
    Title:
    Polymorphisms in the p63 and p73 genes are associated with ovarian cancer risk and clinicopathological variables.
    Species studied:
    Human
    Abstract:
    p73 and p63 are two structural and functional homologs of p53, and their biological functions in cancer progression have attracted attention due to the presence of variants generated by genetic polymorphisms. Recently, three single nucleotide polymorphisms (SNPs) in the p63 and p73 genes have been associated with female reproduction. In the present study, we aimed to evaluate the relationship between these SNPs and ovarian cancer susceptibility and clinical pathology.