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Variant (rsID / SNP)

rs34830702

STXBP1

rs34830702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,422,312. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STXBP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:130422312
Cytoband
9q34.11
HGVS
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)
Allele change
Missense_V84I

Associated conditions / phenotypes

History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts

Public references

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