Variant (rsID / SNP)
rs567071026
rs567071026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,427,574. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
STXBP1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:130427574
- Cytoband
- 9q34.11
- HGVS
- NM_001032221.6(STXBP1):c.627C>T (p.Leu209=)
- Allele change
- Synonymous_L209L
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.