Variant: rs1555912040

present in Gene: EP300-AS1;EP300 present in Chromosome: 22 Position on Chromosome: 41176420 Alleles of this Variant: -/ATGT

rs1555912040 in EP300-AS1;EP300 gene and RUBINSTEIN-TAYBI SYNDROME 2 PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.