Variant: rs387906631

present in Gene: GATA2 present in Chromosome: 3 Position on Chromosome: 128481901 Alleles of this Variant: G/A

rs387906631 in GATA2 gene and Emberger Syndrome PMID 25676417 2015 Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

PMID 23365458 2013 Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

PMID 21892162 2011 Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

PMID 21670465 2011 Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

rs387906631 in GATA2 gene and GATA2 Deficiency PMID 21892162 2011 Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

PMID 25676417 2015 Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

PMID 21670465 2011 Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

PMID 23365458 2013 Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

rs387906631 in GATA2 gene and Leukemia, Myelocytic, Acute PMID 22147895 2012 Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.

PMID 21765025 2011 Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

rs387906631 in GATA2 gene and MYELODYSPLASTIC SYNDROME PMID 21892162 2011 We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.