Q72* (p.Gln72Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q72* (p.Gln72Ter) in ALDOB (Fructose-bisphosphate aldolase B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q72* (p.Gln72Ter) variant details
- p.Gln72Ter
- rs1831191030
- ClinGen CA374265861
- ClinVar RCV001263984
- Ensembl rs1831191030
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)