Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.720 GeneticVariation BEFREE Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome. 25226867

2015
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family. 25981898

2015
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome. 25226867

2015
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation. 20978130

2011
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR Evaluation of transcriptional activity of p53 in individual living mammalian cells. 19454241

2009
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries. 19714490

2009
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR Characterization of a new cancer-associated mutant of p53 with a missense mutation (K351N) in the tetramerization domain. 19806023

2009
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.720 GeneticVariation BEFREE The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries. 19714490

2009
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library. 16007150

2005
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR p53 mutants without a functional tetramerisation domain are not oncogenic. 10064694

1999
dbSNP: rs375338359
rs375338359
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.720 CausalMutation CLINVAR Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain. 9766574

1998