L41C (p.Leu41Cys) variant of GATA1 (Erythroid transcription factor)
L41C (p.Leu41Cys) 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.
L41C (p.Leu41Cys) variant details
- p.Leu41Cys
- rs2519343724
- ClinGen CA2580101048
- ClinVar RCV003045998
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)