R279* (p.Arg279Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)
R279* (p.Arg279Ter) in UBE3A (Ubiquitin-protein ligase E3A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
R279* (p.Arg279Ter) variant details
- p.Arg279Ter
- rs997044541
- ClinGen CA391354988
- NCI-TCGA Cosmic COSV5166
- ClinVar RCV000989275
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Angelman Syndrome. (PMID 20301323)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)