Variant: rs1426175410 

    present in Gene: GATA2
    present in Chromosome: 3
    Position on Chromosome: 128481881
    Alleles of this Variant: G/A;C

rs1426175410 in GATA2 gene and Emberger Syndrome PMID 25879889 2015 Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

PMID 26812071 2016 Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.

PMID 24266605 2013 Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.

PMID 21892158 2011 Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

PMID 23502222 2013 GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 24077845 2014 Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

rs1426175410 in GATA2 gene and GATA2 Deficiency PMID 23502222 2013 GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

PMID 26812071 2016 Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.

PMID 24077845 2014 Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 24266605 2013 Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.

PMID 21892158 2011 Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

PMID 25879889 2015 Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.