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.