Variant: rs104894163 

    present in Gene: GATA3
    present in Chromosome: 10
    Position on Chromosome: 8064037
    Alleles of this Variant: T/A

rs104894163 in GATA3 gene and Barakat syndrome PMID 10935639 2000 GATA3 haplo-insufficiency causes human HDR syndrome.

PMID 11389161 2001 GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

PMID 26514990 2015 A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.