rs121913343, TP53

N. diseases: 44
Disease: Childhood Glioblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.010 GeneticVariation BEFREE Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%). 29666004 2018