A56T (p.Ala56Thr) variant of GATA1 (Erythroid transcription factor)
A56T (p.Ala56Thr) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond. The record also includes published literature and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs2519343805
- ClinGen CA412867133
- ClinVar RCV002304187
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)