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: 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 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
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