R359* (p.Arg359Ter) variant of UBE3A (Ubiquitin-protein ligase E3A)
R359* (p.Arg359Ter) 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.
R359* (p.Arg359Ter) variant details
- p.Arg359Ter
- rs2080238010
- ClinGen CA391354435
- NCI-TCGA Cosmic COSV5166
- ClinVar RCV001071345
- 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)