Q48* (p.Gln48Ter) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q48* (p.Gln48Ter) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- cosmic curated COSV10518
- ExAC rs747942373
- TOPMed rs747942373
- gnomAD rs747942373
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available