S30* (p.Ser30Ter) variant of GATA1 (Erythroid transcription factor)
S30* (p.Ser30Ter) in GATA1 (Erythroid transcription factor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S30* (p.Ser30Ter) variant details
- p.Ser30Ter
- rs1557020021
- ClinGen CA412866876
- cosmic curated COSV64964
- ClinVar RCV001293757
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)