Q7R (p.Gln7Arg) variant of GATA2 (P23769)
Q7R (p.Gln7Arg) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The record also includes structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- rs2472935244
- ClinGen CA354409283
- ClinVar RCV002303134
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available