R23* (p.Arg23Ter) variant of OTC (P00480)
R23* (p.Arg23Ter) 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.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- rs72552300
- ClinGen CA224742
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV000083537
- 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)