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 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
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 Histopathologically, the four G34R-mutant cases included three glioblastomas and one astroblastoma. 28447171 2017
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0004114
Disease:
Astrocytoma 		0.720 GeneticVariation BEFREE Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas. 24285547 2014
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0004114
Disease:
Astrocytoma 		T 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0004114
Disease:
Astrocytoma 		0.720 GeneticVariation BEFREE Because H3F3A K27M mutations occur exclusively in pediatric diffuse high-grade astrocytomas, analysis of codon 27 mutational status could be useful in the differential diagnosis of these neoplasms. 23429371 2013
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0206686
Disease:
Adrenocortical carcinoma 		C 0.700 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: C0006118
Disease:
Brain Neoplasms 		C 0.700 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: C0677865
Disease:
Brain Stem Glioma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1 		0.700 GeneticVariation UNIPROT Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN. 23539269 2013
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1 		0.700 GeneticVariation UNIPROT Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. 22286216 2012
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0677865
Disease:
Brain Stem Glioma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2750850
Disease:
GLIOMA SUSCEPTIBILITY 1 		0.700 GeneticVariation UNIPROT Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. 22286061 2012
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0028738
Disease:
Nystagmus 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0024636
Disease:
Malocclusion 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Recognition and classification of histones using support vector machine. 16472024 2009
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Recognition and classification of histones using support vector machine. 16472024 2009
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice. 10556297 1999
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1865186
Disease:
Bell-shaped thorax 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0700292
Disease:
Hypoxemia 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0019209
Disease:
Hepatomegaly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1837404
Disease:
High, narrow palate 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0265865
Disease:
Mesocardia 		G 0.700 GeneticVariation CLINVAR