Variant (rsID / SNP)

rs796053373

rs796053373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STXBP1. Location: chromosome 9, position 130,444,788. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

STXBP1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:130444788
Cytoband: 9q34.11
HGVS: NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser)
Allele change: Missense_R551C

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 4

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.