rs184815507

This variant is located in the GATA1 gene.

▶

ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis;Diamond-Blackfan anemia

About GATA1

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]

View all GATA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…