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Variant (rsID / SNP)

rs121917753

SCN2A

rs121917753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,229,841. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCN2APathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:166229841
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)
Allele change
Missense_R1319Q

Associated conditions / phenotypes

Complex neurodevelopmental disorder|Developmental and epileptic encephalopathy, 11|Early infantile epileptic encephalopathy with suppression bursts

Public references

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