Variant (rsID / SNP)

rs6520618

rs6520618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCOR. Clinical significance in the table: Benign.

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Reference-table entries

BCORBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001123385.2(BCOR):c.1692A>G (p.Ala564=)
Allele change: Synonymous_A564A

Associated conditions / phenotypes

Oculofaciocardiodental 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.