Q69* (p.Gln69Ter) variant of OTC (P00480)
Q69* (p.Gln69Ter) in OTC (P00480) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- rs72554326
- ClinGen CA224500
- ClinVar RCV000083362
- ClinVar RCV001385349
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)