Gene entry
UBE3A
ubiquitin protein ligase E3A
- Chromosome
- 15
- Cytoband
- 15q11.2
- Variants (rsID)
- 20
UBE3A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q11.2). Its official name is “ubiquitin protein ligase E3A”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
17 reference-table entries with clinical significance.
- rs139082033Benignsingle nucleotide variantAngelman syndrome|History of neurodevelopmental disorder
- rs141984760Benignsingle nucleotide variantAngelman syndrome|History of neurodevelopmental disorder
- rs143484751Benignsingle nucleotide variantAngelman syndrome
- rs149506027Benignsingle nucleotide variantAngelman syndrome|History of neurodevelopmental disorder
- rs150331504Benignsingle nucleotide variantAngelman syndrome|History of neurodevelopmental disorder
- rs28528079Benignsingle nucleotide variantAngelman syndrome|History of neurodevelopmental disorder
- rs61734190Benignsingle nucleotide variantAngelman syndrome|History of neurodevelopmental disorder
- rs79328837Benignsingle nucleotide variantAngelman syndrome
- rs143000400Likely benignsingle nucleotide variantAngelman syndrome
- rs587781234Likely pathogenicMicrosatelliteAngelman syndrome
- rs111033595Pathogenicsingle nucleotide variantAngelman syndrome
- rs587780570PathogenicMicrosatelliteAngelman syndrome
- rs587781204PathogenicDuplicationAngelman syndrome
- rs587781238PathogenicMicrosatelliteAngelman syndrome
- rs587780991Uncertain significancesingle nucleotide variantAngelman syndrome
- rs587782910Uncertain significancesingle nucleotide variantAngelman syndrome
- rs863225071Uncertain significancesingle nucleotide variantAngelman syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.