Variant: rs1569118537

present in Gene: EP300 present in Chromosome: 22 Position on Chromosome: 41172631 Alleles of this Variant: C/T

rs1569118537 in EP300 gene and Colorectal Carcinoma PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

rs1569118537 in EP300 gene and RUBINSTEIN-TAYBI SYNDROME 2 PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.