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Variant (rsID / SNP)

rs886041246

STXBP1

rs886041246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,438,189. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

STXBP1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:130438189
Cytoband
9q34.11
HGVS
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
Allele change
Missense_R406H

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 4|Inborn genetic diseases|Infantile epilepsy syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.