S12* (p.Ser12Ter) variant of GATA1 (Erythroid transcription factor)
S12* (p.Ser12Ter) 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.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- rs2062673416
- ClinGen CA412866733
- cosmic curated COSV64962
- ClinVar RCV001224493
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)
- Cited in: DBA Syndrome. (PMID 20301769)