E14G (p.Glu14Gly) variant of NCF4 (Neutrophil cytosol factor 4)
E14G (p.Glu14Gly) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The record also includes published literature and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- rs2517907766
- ClinGen CA411376372
- ClinVar RCV003044765
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)