S71A (p.Ser71Ala) variant of GATA2 (P23769)
S71A (p.Ser71Ala) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The record also includes structural context.
S71A (p.Ser71Ala) variant details
- p.Ser71Ala
- rs2472934135
- ClinGen CA354408259
- ClinVar RCV003809433
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available