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Variant (rsID / SNP)

rs587784440

SPTAN1

rs587784440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,394,539. 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
9:131394539
Cytoband
9q34.11
HGVS
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 5|Seizure|Early infantile epileptic encephalopathy with suppression bursts|Undetermined early-onset epileptic encephalopathy

Public references

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