Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112431538
rs112431538
TP53
T 0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2013
dbSNP: rs112431538
rs112431538
TP53
T 0.700 GeneticVariation CLINVAR Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients. 22507745

2012
dbSNP: rs112431538
rs112431538
TP53
T 0.700 GeneticVariation CLINVAR Analysis of transactivation capability and conformation of p53 temperature-dependent mutants and their reactivation by amifostine in yeast. 17724467

2008
dbSNP: rs112431538
rs112431538
TP53
T 0.700 GeneticVariation CLINVAR Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572

2008
dbSNP: rs112431538
rs112431538
TP53
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: rs112431538
rs112431538
TP53
T 0.700 GeneticVariation CLINVAR Isolation of temperature-sensitive p53 mutations from a comprehensive missense mutation library. 14559903

2004
dbSNP: rs112431538
rs112431538
TP53
T 0.700 GeneticVariation CLINVAR The p53 mutation which abrogates trans-activation while maintaining its growth-suppression activity. 10987134

2000
dbSNP: rs112431538
rs112431538
TP53
T 0.700 GeneticVariation CLINVAR Two cases of osteosarcoma occurring as second malignancy of childhood cancer. 10697617

2000