Variant: rs1114167305

present in Gene: EP300 present in Chromosome: 22 Position on Chromosome: 41162784 Alleles of this Variant: G/C

rs1114167305 in 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.