L41W (p.Leu41Trp) variant of GATA1 (Erythroid transcription factor)
L41W (p.Leu41Trp) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond. The record also includes published literature and structural context.
L41W (p.Leu41Trp) variant details
- p.Leu41Trp
- rs2519343728
- ClinGen CA412866987
- ClinVar RCV003806989
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)