Variant: rs886043118 

    present in Gene: STAT1
    present in Chromosome: 2
    Position on Chromosome: 191009916
    Alleles of this Variant: T/-

rs886043118 in STAT1 gene and Blood Coagulation Disorders PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

rs886043118 in STAT1 gene and Cholestasis PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs886043118 in STAT1 gene and IMMUNODEFICIENCY 31B PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs886043118 in STAT1 gene and Lymphadenopathy PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs886043118 in STAT1 gene and Thrombocytopenia PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.