Variant (rsID / SNP)

rs878853263

rs878853263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAA10. Clinical significance in the table: Pathogenic.

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Reference-table entries

NAA10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)
Allele change: Silent

Associated conditions / phenotypes

Ogden 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.