Q69* (p.Gln69Ter) variant of AGXT (P21549)
Q69* (p.Gln69Ter) in AGXT (P21549) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- rs180177182
- ClinGen CA275644
- ClinVar RCV000186286
- Ensembl rs180177182
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- AGXT complementation assay *1 B: score 0.961
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)