H71N (p.His71Asn) variant of GATA1 (Erythroid transcription factor)
H71N (p.His71Asn) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H71N (p.His71Asn) variant details
- p.His71Asn
- Ensembl rs2147305769
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available