Variant: rs267607042 

    present in Gene: SETBP1
    present in Chromosome: 18
    Position on Chromosome: 44951942
    Alleles of this Variant: G/A;C

rs267607042 in SETBP1 gene and Juvenile Myelomonocytic Leukemia PMID 23832011 2013 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

rs267607042 in SETBP1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 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 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 25852444 2015 Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

rs267607042 in SETBP1 gene and MYELODYSPLASTIC SYNDROME PMID 23648668 2013 SETBP1 mutation analysis in 944 patients with MDS and AML.

PMID 23889083 2013 Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

rs267607042 in SETBP1 gene and Myeloid Leukemia, Chronic PMID 23222956 2013 Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.

rs267607042 in SETBP1 gene and Schinzel-Giedion syndrome PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

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

PMID 25852444 2015 Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

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