Variant (rsID / SNP)

rs534556046

rs534556046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,444,678. Clinical significance in the table: Benign.

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Reference-table entries

STXBP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:130444678
Cytoband: 9q34.11
HGVS: NM_001032221.6(STXBP1):c.1548-7T>C
Allele change: Silent

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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