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.