{{Rsnum
|rsid=20551
|Gene=EP300
|Chromosome=22
|position=41152004
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2103
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=EP300
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 44.2 | 44.2 | 11.5
| HCB | 80.7 | 17.8 | 1.5
| JPT | 98.2 | 1.8 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 82.5 | 17.5 | 0.0
| CHB | 80.7 | 17.8 | 1.5
| CHD | 81.7 | 18.3 | 0.0
| GIH | 41.0 | 48.0 | 11.0
| LWK | 99.1 | 0.9 | 0.0
| MEX | 12.5 | 51.8 | 35.7
| MKK | 80.8 | 19.2 | 0.0
| TSI | 54.5 | 41.6 | 4.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=20551
|allele=G
|frequency=0.35
|uid=1103691047665
|type=heterozygous_SNP
|hugo=EP300
|ensembl gene=ENSG00000100393
|ensembl transcript=ENST00000263253
|sift=TOLERATED
|disease=Chromosomal aberrations involving EP300 may be a cause of acute myeloid leukemias. Translocation t(8;22)(p11;q13) with MYST3.
}}

{{PMID Auto
|PMID=22231458
|Title=A constitutional variant in the transcription factor EP300 strongly influences the clinical outcome of patients submitted to allo-SCT
}}

{{GET Evidence
|gene=EP300
|aa_change=Ile997Val
|aa_change_short=I997V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs20551
|overall_frequency_n=2225
|overall_frequency_d=10758
|overall_frequency=0.206823
|n_genomes=11
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}