Variant: rs1057520191 

    present in Gene: CREBBP
    present in Chromosome: 16
    Position on Chromosome: 3736690
    Alleles of this Variant: A/G

rs1057520191 in CREBBP gene and RUBINSTEIN-TAYBI SYNDROME 1 PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

PMID 25388907 2015 Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

PMID 11331617 2001 Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

PMID 12566391 2003 Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.

PMID 24616510 2014 Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 20684013 2010 Inheritance and variable expression in Rubinstein-Taybi syndrome.