Variant (rsID / SNP)

rs111033595

rs111033595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBE3A. Location: chromosome 15, position 25,585,366. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

UBE3APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:25585366
Cytoband: 15q11.2
HGVS: NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)
Allele change: Silent

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.