Variant (rsID / SNP)

rs143000400

rs143000400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UBE3A. Location: chromosome 15, position 25,616,142. Clinical significance in the table: Likely benign.

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Reference-table entries

UBE3ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:25616142
Cytoband: 15q11.2
HGVS: NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
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.