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Variant (rsID / SNP)

rs138231868

SCN1A

rs138231868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,854,631. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCN1ABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:166854631
Cytoband
2q24.3
HGVS
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)
Allele change
Silent

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder

Public references

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