Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
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0.010 | GeneticVariation | BEFREE | The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. | 31728854 | 2020 |
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0.010 | GeneticVariation | BEFREE | The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. | 31728854 | 2020 |
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|
0.010 | GeneticVariation | BEFREE | The p.Val600Glu was found in 14/75 grade II GG.No EP were BRAF mutated. | 31673897 | 2019 |
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0.010 | GeneticVariation | BEFREE | The p.Val600Glu was found in 14/75 grade II GG.No EP were BRAF mutated. | 31673897 | 2019 |
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0.010 | GeneticVariation | BEFREE | We determined telomerase enzymatic activity, hTERT mRNA expression, promoter methylation, and the rs2853669 single nucleotide polymorphism located in the hTERT promoter in a well-characterized cohort of pediatric intracranial ependymomas. | 28371821 | 2017 |
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0.010 | GeneticVariation | BEFREE | As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. | 23934769 | 2014 |