present in Gene: GATA2
present in Chromosome: 3
Position on Chromosome: 128481270
Alleles of this Variant: G/A
rs387906629 in
GATA2 gene and
GATA2 Deficiency
PMID 21670465 2011 Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
rs387906629 in
GATA2 gene and
Leukemia, Myelocytic, Acute
PMID 22147895 2012 Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
PMID 21765025 2011 Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.