D65A (p.Asp65Ala) variant of GATA1 (Erythroid transcription factor)
D65A (p.Asp65Ala) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
D65A (p.Asp65Ala) variant details
- p.Asp65Ala
- rs2519343869
- ClinGen CA2740092146
- ClinVar RCV003803821
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)