Variant (rsID / SNP)

rs886041936

rs886041936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HDAC8. Clinical significance in the table: Pathogenic.

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Reference-table entries

HDAC8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)
Allele change: Nonsense_R166X

Associated conditions / phenotypes

6 conditions|Inborn genetic diseases|Cornelia de Lange syndrome 1

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.