rs202045701

This variant is located in the GATA3 gene.

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ClinVar annotation

Conflicting Classifications

3 submitters2 publications

not provided; GATA3-related disorder; Hypoparathyroidism, deafness, renal disease syndrome

About GATA3

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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