N222S (p.Asn222Ser) variant of UBE3A (Ubiquitin-protein ligase E3A)
N222S (p.Asn222Ser) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Angelman syndrome. The record also includes published literature.
N222S (p.Asn222Ser) variant details
- p.Asn222Ser
- rs2552191752
- ClinGen CA391355365
- ClinVar RCV003620731
- NCI-TCGA TCGA novel
- Uncertain significance
- Angelman syndrome
- Missense
- ClinVar: Uncertain significance (Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Angelman Syndrome. (PMID 20301323)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)