Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201809337

STXBP1

rs201809337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,444,817. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

STXBP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:130444817
Cytoband
9q34.11
HGVS
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)
Allele change
Synonymous_N560N

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 4|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.