Variant (rsID / SNP)

rs587781234

rs587781234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBE3A. Location: chromosome 15, position 25,601,990. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

UBE3ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Microsatellite
Chromosome / position: 15:25601990
Cytoband: 15q11.2
HGVS: NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)

Associated conditions / phenotypes

Angelman syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.