Gene: TP53 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934573
rs28934573
TP53
A 0.800 GeneticVariation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143

1992
dbSNP: rs28934874
rs28934874
TP53
T 0.800 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs28934874
rs28934874
TP53
T 0.800 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs28934874
rs28934874
TP53
T 0.800 GeneticVariation CLINVAR A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. 7881428

1994
dbSNP: rs28934874
rs28934874
TP53
T 0.800 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: rs28934875
rs28934875
TP53
G 0.800 GeneticVariation CLINVAR

dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR ERBB2 gene as a potential therapeutic target in small bowel adenocarcinoma. 24797764

2014
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Prognostic significance of TP53 alterations in breast carcinoma. 8102535

1993
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Germline p53 gene mutations in subsets of glioma patients. 8308926

1994
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR TP53 hotspot mutations are predictive of survival in primary central nervous system lymphoma patients treated with combination chemotherapy. 27101868

2016
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693

2013
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. 21059199

2010
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. 15925506

2005
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance. 7981076

1994
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Integrative clinical genomics of advanced prostate cancer. 26000489

2015
dbSNP: rs397514495
rs397514495
TP53
T 0.800 GeneticVariation CLINVAR Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations. 15580553

2005
dbSNP: rs483352695
rs483352695
TP53
C 0.800 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs483352695
rs483352695
TP53
C 0.800 GeneticVariation CLINVAR Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations. 8075648

1994
dbSNP: rs483352695
rs483352695
TP53
C 0.800 GeneticVariation CLINVAR Transforming activity of mutant human p53 alleles. 1918170

1991
dbSNP: rs483352695
rs483352695
TP53
C 0.800 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs483352695
rs483352695
TP53
C 0.800 GeneticVariation CLINVAR Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844

2016