Variant (rsID / SNP)

rs144722432

rs144722432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCOR. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BCORConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
Allele change: Missense_V679I

Associated conditions / phenotypes

Microphthalmia, syndromic 1|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.