TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 GeneticVariation CLINVAR Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 10486318 1999
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Differentially expressed downstream genes in cells with normal or mutated p53. 12725534 2003
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400 2013
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR A global suppressor motif for p53 cancer mutants. 15037740 2004
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy. 24764719 2014
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning. 19756158 2009
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 GeneticVariation CLINVAR Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy. 24764719 2014
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008 2015
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 18685109 2008
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR TP53 germline mutations in adult patients with adrenocortical carcinoma. 22170717 2012
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693 2013
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 10486318 1999
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 10486318 1999
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200 2000
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation 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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		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
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 GeneticVariation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290 2015
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		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