H94D (p.His94Asp) variant of CSF3R (Q99062)
H94D (p.His94Asp) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency. The record also includes structural context.
H94D (p.His94Asp) variant details
- p.His94Asp
- ESP rs368901950
- ExAC rs368901950
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- UniProt: Uncertain significance
- Structural context available