TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR 2009 version of the Chompret criteria for Li Fraumeni syndrome. 19652052 2009
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 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: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 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: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Dominant-negative p53 mutations selected in yeast hit cancer hot spots. 8633021 1996