Variant: rs1555483834 

    present in Gene: CREBBP
    present in Chromosome: 16
    Position on Chromosome: 3778699
    Alleles of this Variant: C/A;T

rs1555483834 in CREBBP gene and Rubinstein-Taybi Syndrome PMID 26788536 2016 CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

PMID 17052327 2006 Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.