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Variant (rsID / SNP)

rs543538780

SCN2A

rs543538780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,179,719. 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
2:166179719
Cytoband
2q24.3
HGVS
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=)
Allele change
Synonymous_A575A

Associated conditions / phenotypes

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