Gene entry
STXBP1
syntaxin binding protein 1
- Chromosome
- 9
- Cytoband
- 9q34.11
- Variants (rsID)
- 24
STXBP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.11). Its official name is “syntaxin binding protein 1”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs534556046Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs561329680Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs567071026Benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder
- rs147607230Conflicting interpretationssingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 4
- rs201809337Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 4|History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs34830702Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs777499631Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
- rs752394761Likely benignsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs121918321Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 4|Early infantile epileptic encephalopathy with suppression bursts|Infantile epilepsy syndrome|Inborn genetic diseases
- rs587777310Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 4|Early infantile epileptic encephalopathy with suppression bursts
- rs796053359Pathogenicsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts
- rs796053366Pathogenicsingle nucleotide variantEpileptic encephalopathy|Early infantile epileptic encephalopathy with suppression bursts|Intellectual disability|Infantile epilepsy syndrome|Developmental and epileptic encephalopathy, 4|Tremor|Cerebellar ataxia|Moderate global developmental delay
- rs796053367Pathogenicsingle nucleotide variantEpileptic encephalopathy|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 4|Infantile epilepsy syndrome
- rs796053373Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 4
- rs886041246Pathogenicsingle nucleotide variantEarly infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 4|Inborn genetic diseases|Infantile epilepsy syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.