E39G (p.Glu39Gly) variant of GATA1 (Erythroid transcription factor)
E39G (p.Glu39Gly) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- rs2062673859
- ClinGen CA2428390239
- ClinVar RCV001293759
- Ensembl rs2062673859
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available