Variant (rsID / SNP)
rs796053366
rs796053366 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,435,529. Clinical significance in the table: Pathogenic.
Reference-table entries
STXBP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:130435529
- Cytoband
- 9q34.11
- HGVS
- NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)
- Allele change
- Nonsense_R367X
Associated conditions / phenotypes
Epileptic 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.