Variant: rs1554231814 

    present in Gene: ARID1B
    present in Chromosome: 6
    Position on Chromosome: 157184262
    Alleles of this Variant: C/-

rs1554231814 in ARID1B gene and Multiple congenital anomalies PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

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

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

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 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

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

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.