Gene: TP53 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517840
rs1057517840
TP53
T 0.700 CausalMutation CLINVAR The p53 gene in pediatric therapy-related leukemia and myelodysplasia. 8639798

1996
dbSNP: rs1057519981
rs1057519981
TP53
G 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs1057519986
rs1057519986
TP53
G 0.700 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs1057519986
rs1057519986
TP53
G 0.700 CausalMutation CLINVAR Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay. 12917626

2003
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995

2007
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Benzo[a]pyrene, aflatoxine B₁ and acetaldehyde mutational patterns in TP53 gene using a functional assay: relevance to human cancer aetiology. 22319594

2012
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845

2015
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Genetic and functional analysis of a Li Fraumeni syndrome family in China. 26818906

2016
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570

2008
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR The presence of TP53 mutation at diagnosis of follicular lymphoma identifies a high-risk group of patients with shortened time to disease progression and poorer overall survival. 18628487

2008
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs1057519992
rs1057519992
TP53
C 0.700 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs1057519992
rs1057519992
TP53
C 0.700 GeneticVariation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
dbSNP: rs1057519992
rs1057519992
TP53
C 0.700 GeneticVariation CLINVAR Complex functions of mutant p53 alleles from human prostate cancer. 11920959

2002
dbSNP: rs1057519992
rs1057519992
TP53
C 0.700 GeneticVariation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432

2010
dbSNP: rs1057520007
rs1057520007
TP53
C 0.700 GeneticVariation CLINVAR Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark. 29324801

2018
dbSNP: rs1057520007
rs1057520007
TP53
C 0.700 GeneticVariation CLINVAR Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. 10922393

2000
dbSNP: rs1057520007
rs1057520007
TP53
C 0.700 GeneticVariation CLINVAR Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. 21356188

2011
dbSNP: rs1057520007
rs1057520007
TP53
C 0.700 GeneticVariation CLINVAR Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. 16861262

2007
dbSNP: rs1057520007
rs1057520007
TP53
C 0.700 GeneticVariation CLINVAR Transactivation by temperature-dependent p53 mutants in yeast and human cells. 20505364

2010
dbSNP: rs1057523347
rs1057523347
TP53
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501194
rs1060501194
TP53
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501197
rs1060501197
TP53
G 0.700 CausalMutation CLINVAR