Variant: rs1555706391 

    present in Gene: SETBP1
    present in Chromosome: 18
    Position on Chromosome: 44950745
    Alleles of this Variant: A/-

rs1555706391 in SETBP1 gene and Dysmorphic features PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PMID 23832012 2013 Somatic SETBP1 mutations in myeloid malignancies.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 21037274 2011 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

PMID 18398855 2008 Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

rs1555706391 in SETBP1 gene and Muscle hypotonia PMID 18398855 2008 Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 21037274 2011 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

PMID 23832012 2013 Somatic SETBP1 mutations in myeloid malignancies.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

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

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.