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

N. diseases: 134; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE Histopathologically, the four G34R-mutant cases included three glioblastomas and one astroblastoma. 28447171 2017
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
C 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE H3F3A mutations are seen in ∼30% of pediatric glioblastoma (GBMs) and involve either the lysine residue at position 27 (K27M) or glycine at position 34 (G34R/V). 23414300 2013
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.740 GeneticVariation BEFREE Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors. 23429371 2013