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Variant (rsID / SNP)

rs200603552

SCN2A

rs200603552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,245,713. 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
2:166245713
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
Allele change
Synonymous_Y1799Y

Associated conditions / phenotypes

Seizures, benign familial infantile, 3|Seizures, benign familial infantile, 3|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.