Variant: rs398122368 

    present in Gene: SMARCB1
    present in Chromosome: 22
    Position on Chromosome: 23791772
    Alleles of this Variant: G/A;C

rs398122368 in 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 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.