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: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008 2015
dbSNP: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing. 25757876 2015
dbSNP: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 21601526 2011
dbSNP: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
dbSNP: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618 2009
dbSNP: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 18685109 2008
dbSNP: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation 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: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 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: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Heterogeneity in the clinical phenotype of TP53 mutations in breast cancer patients. 11051239 2000
dbSNP: rs148924904
rs148924904
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.800 CausalMutation CLINVAR Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma. 8164043 1994