Variant (rsID / SNP)

rs752394761

rs752394761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,440,735. Clinical significance in the table: Likely benign.

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Reference-table entries

STXBP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:130440735
Cytoband: 9q34.11
HGVS: NM_001032221.6(STXBP1):c.1385C>T (p.Pro462Leu)
Allele change: Missense_P462L

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.