Variant (rsID / SNP)

rs28933691

rs28933691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZNF81. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ZNF81Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_007137.5(ZNF81):c.536G>A (p.Ser179Asn)
Allele change: Missense_S179N

Associated conditions / phenotypes

Intellectual disability, X-linked 45

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.