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: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2986658
Disease:
Diffuse Intrinsic Pontine Glioma
0.060 GeneticVariation BEFREE In conclusion, our study demonstrates a high frequency of histone K27M mutations in DIPG when MRI features are carefully assessed, thus confirming the consistency of imaging with biological markers in our institutional series of DIPG. 31848724 2020
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017638
Disease:
Glioma
0.050 GeneticVariation BEFREE No significant prognostic value was observed for grade, even after regrading H3F3A K27M-mutated midline glioma as grade IV (WHO 2016). 31419298 2020
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017638
Disease:
Glioma
0.050 GeneticVariation BEFREE Whereas both H3F3A K27M and BRAF V600E have been reported as poor prognostic markers in pediatric glioma, our case, along with several other reported cases, suggests that the coexistence of these two mutations might not indicate poor prognosis. 31254135 2019
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C4722099
Disease:
High grade glioma
0.010 GeneticVariation BEFREE Extraneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation. 31139567 2019
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0555198
Disease:
Malignant Glioma
0.010 GeneticVariation BEFREE Extraneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation. 31139567 2019
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017638
Disease:
Glioma
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0555198
Disease:
Malignant Glioma
0.010 GeneticVariation BEFREE Extraneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation. 31139567 2019
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C4722099
Disease:
High grade glioma
0.010 GeneticVariation BEFREE Extraneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation. 31139567 2019
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017638
Disease:
Glioma
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
dbSNP: rs1057519902
rs1057519902
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0206715
Disease:
Neoplasms, Neuroepithelial
0.010 GeneticVariation BEFREE H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components. 31109382 2019
dbSNP: rs1553260624
rs1553260624
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0206715
Disease:
Neoplasms, Neuroepithelial
0.010 GeneticVariation BEFREE H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components. 31109382 2019
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0006118
Disease:
Brain Neoplasms
0.020 GeneticVariation BEFREE Diffuse intrinsic pontine gliomas (DIPGs) are highly aggressive pediatric brain tumors that are characterized by a recurrent mutation (K27M) within the histone H3 encoding genes H3F3A or HIST1H3A/B/C. 30943283 2019
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0027651
Disease:
Neoplasms
0.100 GeneticVariation BEFREE As compared to H3 K27M-wildtype tumo</span>rs, there were no differences in age at diagnosis, sex, tumor grade, contrast enhancement on MRI, extent of resection, or treatment received. 30864101 2019
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0017636
Disease:
Glioblastoma
0.080 GeneticVariation BEFREE Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362 2018
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0206726
Disease:
gliosarcoma
0.010 GeneticVariation BEFREE We histopathologically identified 14 glioblastomas, 4 grade III astrocytomas and 1 gliosarcoma.Two cases showed a H3F3A K27M mutation. 29809131 2019
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C3899658
Disease:
Childhood Gliosarcoma
0.010 GeneticVariation BEFREE We histopathologically identified 14 glioblastomas, 4 grade III astrocytomas and 1 gliosarcoma.Two cases showed a H3F3A K27M mutation. 29809131 2019
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1541317
Disease:
Adult Gliosarcoma
0.010 GeneticVariation BEFREE We histopathologically identified 14 glioblastomas, 4 grade III astrocytomas and 1 gliosarcoma.Two cases showed a H3F3A K27M mutation. 29809131 2019
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0206716
Disease:
Ganglioglioma
0.020 GeneticVariation BEFREE Here, we report a rare patient with spinal ganglioglioma carrying an H3 K27M mutation. 29675936 2018
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1332969
Disease:
Childhood Ganglioglioma
0.020 GeneticVariation BEFREE Here, we report a rare patient with spinal ganglioglioma carrying an H3 K27M mutation. 29675936 2018
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0007762
Disease:
Cerebellar Neoplasms
0.020 GeneticVariation BEFREE A case report of adult cerebellar high-grade glioma with H3.1 K27M mutation: a rare example of an H3 K27M mutant cerebellar tumor. 29264735 2018
dbSNP: rs1057519903
rs1057519903
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C0555198
Disease:
Malignant Glioma
0.010 GeneticVariation BEFREE A case report of adult cerebellar high-grade glioma with H3.1 K27M mutation: a rare example of an H3 K27M mutant cerebellar tumor. 29264735 2018