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.