Variant: rs1057519375

present in Gene: EP300;EP300-AS1 present in Chromosome: 22 Position on Chromosome: 41178931 Alleles of this Variant: CA/-

rs1057519375 in EP300;EP300-AS1 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.