Variant: rs1555471813 

    present in Gene: CREBBP
    present in Chromosome: 16
    Position on Chromosome: 3731235
    Alleles of this Variant: C/T

rs1555471813 in CREBBP gene and Dysmorphic features 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 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 25108505 2015 Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

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

PMID 12070251 2002 Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

PMID 10699051 2000 Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

PMID 16783566 2006 Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

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

PMID 26603346 2016 Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

PMID 26956253 2016 Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

PMID 25599811 2015 Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

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

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 27165009 2016 Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

PMID 27311832 2016 CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

PMID 27342041 2016 Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.

PMID 16021471 2005 DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

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