Q21* (p.Gln21Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q21* (p.Gln21Ter) in ALDOB (Fructose-bisphosphate aldolase B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- rs2118366288
- ClinGen CA374266194
- ClinVar RCV001920274
- Ensembl rs2118366288
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)