K13Q (p.Lys13Gln) variant of ALDOB (Fructose-bisphosphate aldolase B)
K13Q (p.Lys13Gln) in ALDOB (Fructose-bisphosphate aldolase B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary fructosuria. The record also includes published literature.
K13Q (p.Lys13Gln) variant details
- p.Lys13Gln
- rs2490130664
- ClinGen CA374266246
- ClinVar RCV003496836
- Uncertain significance
- Hereditary fructosuria
- Missense
- ClinVar: Uncertain significance (Hereditary fructosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Hereditary Fructose Intolerance. (PMID 26677512)