Q18* (p.Gln18Ter) variant of ABCG8 (Q9H221)
Q18* (p.Gln18Ter) in ABCG8 (Q9H221) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs2466158443
- ClinGen CA346662585
- ClinVar RCV003849506
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available