present in Gene: SMARCA2
present in Chromosome: 9
Position on Chromosome: 2086866
Alleles of this Variant: G/A
rs1471482709 in
SMARCA2 gene and
Nicolaides Baraitser 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 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
PMID 27665729 2017 New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.