Q58* (p.Gln58Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
Q58* (p.Gln58Ter) 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.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs1831192129
- ClinGen CA374265953
- ClinVar RCV001263985
- Ensembl rs1831192129
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)