Variant (rsID / SNP)

rs149506027

rs149506027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBE3A. Location: chromosome 15, position 25,616,052. Clinical significance in the table: Benign.

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Reference-table entries

UBE3ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:25616052
Cytoband: 15q11.2
HGVS: NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
Allele change: Silent

Associated conditions / phenotypes

Angelman syndrome|History of neurodevelopmental disorder

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.