Variant: rs1057517825 

    present in Gene: DERL3;SMARCB1
    present in Chromosome: 22
    Position on Chromosome: 23834143
    Alleles of this Variant: G/A

rs1057517825 in DERL3;SMARCB1 gene and Dysmorphic features PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

rs1057517825 in DERL3;SMARCB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 26364901 2015 Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

rs1057517825 in DERL3;SMARCB1 gene and Multiple congenital anomalies PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

rs1057517825 in DERL3;SMARCB1 gene and Muscle hypotonia PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.