Gene: TP53 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991
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
0.820 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. 9598730

1998
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Gain of function mutations in p53. 8099841

1993
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

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: rs121912651
rs121912651
TP53
0.820 GeneticVariation BEFREE It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234

2008
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity. 24603336

2014
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
0.820 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234

2008
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR The first documentation of Li-Fraumeni syndrome in Korea. 8527048

1995
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999
dbSNP: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations. 9825943

1998
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 Complex functions of mutant p53 alleles from human prostate cancer. 11920959

2002
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
0.820 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991
dbSNP: rs121912651
rs121912651
TP53
A 0.820 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: rs121912651
rs121912651
TP53
A 0.820 CausalMutation CLINVAR Mutant p53: one name, many proteins. 22713868

2012
dbSNP: rs121912651
rs121912651
TP53
0.820 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995