Variant (rsID / SNP)

rs5917933

rs5917933 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.1260T>C (p.Asp420=)
Allele change: Synonymous_D420D

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.