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Variant (rsID / SNP)

rs796053367

STXBP1

rs796053367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,438,188. Clinical significance in the table: Pathogenic.

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Reference-table entries

STXBP1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:130438188
Cytoband
9q34.11
HGVS
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)
Allele change
Missense_R406C

Associated conditions / phenotypes

Epileptic encephalopathy|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 4|Infantile epilepsy syndrome

Public references

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