R4G (p.Arg4Gly) variant of ALDOB (Fructose-bisphosphate aldolase B)
R4G (p.Arg4Gly) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- ExAC rs118204428
- TOPMed rs118204428
- gnomAD rs118204428
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic