Variant (rsID / SNP)

rs587784438

rs587784438 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,389,704. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPTAN1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Microsatellite
Chromosome / position: 9:131389704
Cytoband: 9q34.11
HGVS: NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 5|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.