Variant (rsID / SNP)
rs587781204
rs587781204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBE3A. Location: chromosome 15, position 25,615,723. Clinical significance in the table: Pathogenic.
Reference-table entries
UBE3APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 15:25615723
- Cytoband
- 15q11.2
- HGVS
- NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)
Associated conditions / phenotypes
Angelman syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.