Q17* (p.Gln17Ter) variant of GATA1 (Erythroid transcription factor)
Q17* (p.Gln17Ter) 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.
Q17* (p.Gln17Ter) variant details
- p.Gln17Ter
- rs2062673523
- ClinGen CA412866762
- cosmic curated COSV64961
- ClinVar RCV001216172
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)