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Variant (rsID / SNP)

rs121917751

SCN2A

rs121917751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,201,176. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SCN2APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:166201176
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)
Allele change
Missense_V892I

Associated conditions / phenotypes

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

Public references

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