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Variant (rsID / SNP)

rs185590667

SCN2A

rs185590667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,167,095. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SCN2ABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:166167095
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=)
Allele change
Synonymous_I320I

Associated conditions / phenotypes

Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3|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.