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Variant (rsID / SNP)

rs200543425

SPTAN1

rs200543425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,367,308. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPTAN1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:131367308
Cytoband
9q34.11
HGVS
NM_001130438.3(SPTAN1):c.3720-5T>G
Allele change
Silent

Associated conditions / phenotypes

Childhood epilepsy with centrotemporal spikes|Seizure|Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 5

Public references

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