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Variant (rsID / SNP)

rs138497939

SCN2A

rs138497939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,245,784. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:166245784
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)
Allele change
Missense_D1823A

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 11

Public references

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