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

N. diseases: 68; N. variants: 3
Source: CLINVAR ×
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 		C 0.740 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 		T 0.720 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: 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: 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: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Critical Role of Histone Turnover in Neuronal Transcription and Plasticity. 26139371 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Critical Role of Histone Turnover in Neuronal Transcription and Plasticity. 26139371 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Critical Role of Histone Turnover in Neuronal Transcription and Plasticity. 26139371 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer. 23415232 2013
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer. 23415232 2013
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer. 23415232 2013
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR The human histone H3 complement anno 2011. 21782046 2011
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR The human histone H3 complement anno 2011. 21782046 2011
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR The human histone H3 complement anno 2011. 21782046 2011
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243 2010
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243 2010
dbSNP: rs1276519904
rs1276519904
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243 2010
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