H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
Disease: Adult Glioblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0278878
Disease:
Adult Glioblastoma 		0.030 GeneticVariation BEFREE Histologically, the tumor was considered to be glioblastoma; however, a part of the tumor exhibiting low proliferative activity appeared to be consistent with long-standing H3 K27M-mutant tumors in the literature.Another case was a 69-year-old male. 28547652 2017
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0278878
Disease:
Adult Glioblastoma 		0.030 GeneticVariation BEFREE Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. 27392443 2016
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0278878
Disease:
Adult Glioblastoma 		0.030 GeneticVariation BEFREE These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples. 26376656 2016