Gene: TP53 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
TP53
G 0.900 GeneticVariation CLINVAR The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library. 16007150

2005
dbSNP: rs121912664
rs121912664
TP53
G 0.900 GeneticVariation CLINVAR Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers. 10719737

2000
dbSNP: rs121912664
rs121912664
TP53
G 0.900 GeneticVariation CLINVAR Geographical variations in TP53 mutational spectrum in ovarian carcinomas. 16907706

2006
dbSNP: rs121912664
rs121912664
TP53
G 0.900 GeneticVariation CLINVAR Evaluation of transcriptional activity of p53 in individual living mammalian cells. 19454241

2009
dbSNP: rs121912664
rs121912664
TP53
G 0.900 GeneticVariation CLINVAR p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma. 12209975

2002
dbSNP: rs121912664
rs121912664
TP53
G 0.900 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 21601526

2011
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR FOXM1 is a molecular determinant of the mitogenic and invasive phenotype of anaplastic thyroid carcinoma. 22919068

2012
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Complex functions of mutant p53 alleles from human prostate cancer. 11920959

2002
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Screening the p53 status of human cell lines using a yeast functional assay. 9290701

1997
dbSNP: rs121912651
rs121912651
TP53
C 0.820 GeneticVariation CLINVAR Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 10486318

1999
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy. 24764719

2014
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693

2013
dbSNP: rs587782144
rs587782144
TP53
T 0.810 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: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. 17308077

2007
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290

2015
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data. 27328919

2016
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008

2015