Variant (rsID / SNP)

rs398122909

rs398122909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HDAC8. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HDAC8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
Allele change: Missense_G320R

Associated conditions / phenotypes

Cornelia de Lange syndrome 5|Intellectual disability

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.