Variant: rs1057518496 

    present in Gene: SATB2
    present in Chromosome: 2
    Position on Chromosome: 199349006
    Alleles of this Variant: G/A

rs1057518496 in SATB2 gene and Dysmorphic features PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 2918541 1989 Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

PMID 27409069 2016 Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

PMID 24363063 2014 Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

PMID 28151491 2017 Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25885067 2015 Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

PMID 27668656 2016 TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 24301056 2014 Further delineation of the SATB2 phenotype.

PMID 23925499 2013 Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

PMID 19668335 2009 Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

PMID 16751105 2006 SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.

PMID 17377962 2007 Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 16960803 2006 Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.

PMID 19576302 2010 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

PMID 28170089 2017 DEPDC5 mutations in familial and sporadic focal epilepsy.

PMID 12915443 2003 Identification of SATB2 as the cleft palate gene on 2q32-q33.

PMID 10417281 1999 A locus for isolated cleft palate, located on human chromosome 2q32.

PMID 28211976 2017 A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

rs1057518496 in SATB2 gene and Muscle hypotonia PMID 17377962 2007 Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

PMID 16960803 2006 Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.

PMID 10417281 1999 A locus for isolated cleft palate, located on human chromosome 2q32.

PMID 16751105 2006 SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.

PMID 19576302 2010 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

PMID 12915443 2003 Identification of SATB2 as the cleft palate gene on 2q32-q33.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 19668335 2009 Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

PMID 28170089 2017 DEPDC5 mutations in familial and sporadic focal epilepsy.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 24301056 2014 Further delineation of the SATB2 phenotype.

PMID 24363063 2014 Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

PMID 28211976 2017 A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

PMID 23925499 2013 Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

PMID 2918541 1989 Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

PMID 27668656 2016 TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 27409069 2016 Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

PMID 25885067 2015 Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

PMID 28151491 2017 Clinical and molecular consequences of disease-associated de novo mutations in SATB2.