rs121912657, TP53

N. diseases: 24
Disease: Choroid Plexus Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Choroid Plexus Carcinoma
CUI: C0431109
Disease: Choroid Plexus Carcinoma
0.010 GeneticVariation BEFREE We show that (i) in the choroid plexus carcinoma, the germline mutation was detected in a homozygous state due to copy-neutral LOH/uniparental disomy, (ii) in the secondary AML, a complex karyotype led to loss of the wild-type TP53 allele, (iii) in the Wilms tumor, the somatic mutation c.814G>A led to compound heterozygosity. 25787918 2015