Variant (rsID / SNP)

rs3750333

rs3750333 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTAN1. Location: chromosome 9, position 131,379,998. Clinical significance in the table: Benign.

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Reference-table entries

SPTAN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:131379998
Cytoband: 9q34.11
HGVS: NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=)
Allele change: Silent

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|Seizure|Developmental and epileptic encephalopathy, 5

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.