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Variant (rsID / SNP)

rs777499631

STXBP1

rs777499631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,440,754. 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
9:130440754
Cytoband
9q34.11
HGVS
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)
Allele change
Synonymous_I468I

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.