Q12E (p.Gln12Glu) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q12E (p.Gln12Glu) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- 1000Genomes rs190631679
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic